Everything the analysis engine concluded from the corpus: new publications, sources that changed, gene–trait links, reported figures, care recommendations and contradicting evidence. Each card shows how many independent sources support it and links to the exact sentence.
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.”
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus, hypoplasia of vaginal part of uteri cervix, hypoplasia of vagina, transverse vaginal septum.”
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and low but detectable concentration of C‐peptide (0.2 nmol/L with N: 0.4‐1.2 nmol/L).”
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected for the first time.”
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are HNF1B-associated phenotypes, and genetic analysis revealed a novel variant of HNF1B.”
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
A source reports “72.0%” in the context of kidney: “Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25.8%), and CAKUT (19.2%).”
A source reports “147 Cases” in the context of kidney: “Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China Abstract Background Fetal polycystic kidney disease (FPDK) is a common ultrasound finding, but its ”
A source reports “95.0%” in the context of kidney: “Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%.”
A source reports “25.0%” in the context of kidney: “Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements.”
A source reports “7.4%” in the context of diabetes metabolic: “Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence variant or 17q12del.”
A source reports “79%” in the context of kidney: “Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.”
A source reports “54%” in the context of kidney: “A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%; P = 0.008).”
A source reports “6.3%” in the context of diabetes metabolic: “Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012.”
A source reports “2 cases” in the context of diabetes metabolic: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.”
A source reports “35 individuals” in the context of diabetes metabolic: “For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration.”
A source reports “18 individuals” in the context of diabetes metabolic: “A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes.”
A source reports “175 individuals” in the context of diabetes metabolic: “Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lowering therapy (175 individuals from case reports and cohort data, range of time between 3-126 months) 15 , 17 , 19 , 21 , 22...
A source reports “11.7%” in the context of diabetes metabolic: “A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after high-carbohydrate diet if the analysis was restricted to the seven patients with an initial HbA1c above 6.5% (a non-predefined analysis).”
A source reports “76 individuals” in the context of diabetes metabolic: “A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals) 25 - 29 , and almost all the observational data (18 studies, 182 individuals) 21 , 23 , 30 - 45 were for HNF1A-diabetes.”
A source reports “16 individuals” in the context of diabetes metabolic: “While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabetes data that could be extracted 21 , 22 , 34 .”
A source reports “0.8%” in the context of diabetes metabolic: “The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a worsening of HbA1c by 3.2%.”
A source reports “293 cases” in the context of diabetes metabolic: “The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD.”
A source reports “29 of 51” in the context of diabetes metabolic: “One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] duration of 0.75 [0-5.25] years and reported that 29 of 51 (57%) patients displayed an HbA1c decrease.”
A source reports “16 cases” in the context of diabetes metabolic: “After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five case series reporting on 16 cases, 14 reports of single cases, for a total of 30 6q24-TND cases for whom data was available...
A source reports “72 patients” in the context of diabetes metabolic: “Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the median follow-up time of 1 year (3 days-3 years) after initiation of thiamine.”
A source reports “95 patients” in the context of diabetes metabolic: “Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy.”
A source reports “29 of 95” in the context of diabetes metabolic: “Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients with a median pre-HbA1c of 8.7% (5.9-21.0%) and median post-HbA1c 6.7% (5.2-9.1%) 90 , 94 , 95 , 101 - 104 , 106 , 110 , 113 - 116 , 118 .”
A source reports “16 of 89” in the context of diabetes metabolic: “Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68 (0.42-1.8) IU/kg/day prior to thiamine treatment and 0.4 (0.0-0.8) IU/kg/day while on thiamine treatment.”
A source reports “17.3%” in the context of diabetes metabolic: “His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L.”
A source reports “41 cases” in the context of general: “Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pubmed.”
A source reports “75.4%” in the context of general: “Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children with isolated ACC, respectively [ 25 ].”
A source reports “4.2%” in the context of diabetes metabolic: “4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fasting blood glucose 87 mg/dL).”
A source reports “521 patients” in the context of kidney: “Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for rare kidney diseases with detailed information on the HNF1B genotype ( HNF1B variants or the 17q12del).”
A source reports “521 individuals” in the context of kidney: “We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a large multicenter European cohort of 521 individuals with genetically well-characterized HNF1B disease.”
A source reports “97%” in the context of kidney: “Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P < 0.001) and displayed a delayed progression to ESKF ( Supplementary Figure S3 a, P < 0.001) with ESKF-free survival of 97% (95% CI: 95-100) ”
A source reports “29%” in the context of kidney: “Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Supplementary Table S2 ) and was significantly more frequent in patients with the 17q12del (HR: 2.12 [95% CI: 1.32-3.50], P = 0.002, Figure 7 a).”
A source reports “12%” in the context of diabetes metabolic: “Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did not correlate with a specific HNF1B genotype even though a tendency to be less frequent in the population with the 17q12del was observed (H”
A source reports “67%” in the context of general: “In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67% in the current study versus 56% to 59% in the literature.”
A source reports “62 patients” in the context of kidney: “(b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patients with the 17q12del.”
A source reports “16.8%” in the context of kidney: “This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level of fasting venous blood glucose was 30.0 mmol/L, the serum potassium was 2.81 mmol/L, and the hemoglobin A1c (HbA1c) level was 16.8%.”
A source reports “94.6 %” in the context of kidney: “Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK, 28/37, 75.7 %) and multicystic dysplastic kidneys (17/37, 45.9 %) being the most common findings.”
A source reports “57.1 %” in the context of general: “We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, lower than previously reported in the literature [ 1 ].”
A source reports “50 individuals” in the context of general: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were often further tested for CMA because of ID and/or DD.”
A source reports “39.58 %” in the context of kidney: “In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36 ] indicated that HEK had a CMA diagnostic yield of up to 39.58 %.”
A source reports “68.8 %” in the context of kidney: “2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), while it may result from various renal abnormalities.”
A source reports “72%” in the context of kidney: “Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [ 21 ].”
A source reports “62%” in the context of kidney: “Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ].”
A source reports “61%” in the context of kidney: “As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal symptom listed in the figure.”
A source reports “63%” in the context of general: “HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 ).”
A source reports “21%” in the context of general: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the other two had missense mutations.”
A source reports “86 patients” in the context of neurodevelopment: “( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities had developed autism, growth retardation and social interaction impairment over time.”
A source reports “18%” in the context of kidney: “Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.”
A source reports “265 individuals” in the context of cancer: “To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 controls from the Wellcome Trust Case Control Con”
A source reports “24 patients” in the context of kidney: “In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as characteristics pointing to HNF1B disease.”
A source reports “27 patients” in the context of diabetes metabolic: “Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse genital tract abnormalities in 5 of 13 females, and infertility in 2 of 14 males.”
A source reports “461 patients” in the context of diabetes metabolic: “We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset diabetes of the young (two generations affected and at least one family member diagnosed under 25 years).”
A source reports “70 %” in the context of kidney: “A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease and hyperuricemia.Key words: HNF1B - MODY - RCAD - diabetes mellitus - cholestatic jaundice.”
A source reports “289 cases” in the context of general: “We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls.”
A source reports “4.17%” in the context of general: “In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations.”
A source reports “7 cases” in the context of kidney: “Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed.”
A source reports “4 patients” in the context of kidney: “All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys.”
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P = 0.836, Supplementary Figure S4 b).”
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show that the cystic renal phenotype was not associated with decreased expression of the cystic disease...
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the proportion of inherited versus de novo pathogenic variants ( p = 0.198).”
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was more suggestive of an HNF1B -related disorder.”
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a strong propensity for lymph node metastasis, but its molecular features remain incompletely defined.
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados Objetivo: O objetivo deste estudo é integrar evidências clínicas sobre ceratocone e doença renal crônica ou nefropatias hereditárias e discutir possíveis mecanismos compartilhados, distinguindo...
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the hepatocyte nuclear factor 1-beta (HNF1B) gene on chromosome 17q12, encoding a transcription factor...
Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.
Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD.
Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component.
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
To the Editor : A 12-y-old boy presented to the hospital with unexplained tremor of the upper limbs for a week.
can be found in Supplemental Table S4 . 2.2.2. F1 Generation The indirectly exposed F1 generation displayed six DEGs at the level of ≥1 absolute log 2 fold change and p < 0.
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene.
Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or, where applicable, from their legal guardians prior to participation in this study.
Background Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies.
Introduction Monogenic diabetes is a rare cause of diabetes in the population, accounting for an estimated 1-5% of diabetes cases.
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
Background and Objectives Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease.
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis.
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course.
Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have contributed equally to this work Background Fetal hyperechoic kidney is an important soft marker in...
The mechanisms of age-related differences and innovative intervention strategies for cognitive dysfunction in hemodialysis patients are crucial for enhancing patient outcomes.
Background There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic results in cases of fetal renal abnormalities and to establish genotype-phenotype correlations.
In 13 independent articles, the gene PIGW comes up together with learning, speech and behaviour. Association strength 0.08..
In 10 independent articles, the gene ZNHIT3 comes up together with liver and gallbladder. Association strength 0.09..
In 9 independent articles, the gene PIGW comes up together with liver and gallbladder. Association strength 0.08..
In 6 independent articles, the gene PIGW comes up together with growth, gut and nutrition. Association strength 0.09..
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the...
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male...
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel...
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was...
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”
A source describes a new or expanded observation: “Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different subtypes of epilepsies.”
A source describes a new or expanded observation: “We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of epilepsy-related GATOR1 variants by Baldassari et al.”
A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”
A source describes a new or expanded observation: “For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated with ASD, heart defects, biliary tract dysfunction, and obesity.”
A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”
A source describes a new or expanded observation: “In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.”
A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the brain, cerebellum, kidneys and genitourinary system, gastrointestinal system, skeleton, diaphragm...
A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”
A source describes a new or expanded observation: “Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro model systems to understand their roles in abnormal kidney and urinary tract development.”
A source describes a new or expanded observation: “Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain network analysis of POE may also yield novel findings.”
A source describes a new or expanded observation: “Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, particularly those with a history of psychiatric disorders and those recently initiated on novel ASMs.”
A source describes a new or expanded observation: “The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic factors discussed in this review may offer insights into the onset and progression of psychotic symptoms in epilepsy patients and are anticipated to inform...
A source describes a new or expanded observation: “Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with...
A source describes a new or expanded observation: “Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants.”
A source describes a new or expanded observation: “One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first reported case in the literature that demonstrated a relationship with annular pancreas.”
A source describes a new or expanded observation: “A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.”
A source describes a new or expanded observation: “Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.”
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot...
A source describes a new or expanded observation: “Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which a given gene is associated with a particular form of kidney disease.”
A source describes a new or expanded observation: “We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk interruption syndrome and consequent hypopituitarism.”
A source describes a new or expanded observation: “We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS) and a final diagnosis of 17q12 deletion syndrome (including the HNF1β gene).”
A source describes a new or expanded observation: “Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a compound heterozygote for a paternally inherited frameshift and a maternally inherited missense variant...
A source describes a new or expanded observation: “Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.”
A source describes a new or expanded observation: “Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.”
A source describes a new or expanded observation: “A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.”
A source describes a new or expanded observation: “12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, to validate our cell line and its relevance to ASD.”
A source describes a new or expanded observation: “These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b levels in the mTOR pathway, may implicate the novel pathogenic mechanism of ASD.”
A source describes a new or expanded observation: “We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate uterus) who presented with difficulty inserting tampons and menstrual cups.”
A source describes a new or expanded observation: “In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diagnosed during her first pregnancy.”
A source describes a new or expanded observation: “Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point to the potential for phenotypic expansion for known and yet-to-be-identified developmental disorders.”
A source describes a new or expanded observation: “Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.”
A source describes a new or expanded observation: “This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sample and what pathways may be represented by these genes, providing mechanistic and therapeutic insights into a novel Filipino-patient derived lung cancer...
A source describes a new or expanded observation: “OGM enables precise visualization of complex structural variations, providing deeper insights into genomic architecture, prognostic implications, and potential novel cancer-related genes.”
A source describes a new or expanded observation: “Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative...
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
A source describes a new or expanded observation: “Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.”
A source describes a new or expanded observation: “Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
A source describes a new or expanded observation: “This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
A source describes a new or expanded observation: “These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 and examining rates of kidney growth in children with ADPKD 77 .”
A source describes a new or expanded observation: “Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.”
A source describes a new or expanded observation: “Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy without hypoplasia of pons and vermis ( CYB5R3 ), cerebellar atrophy ( MTM1 ), progressive cerebellar...
A source describes a new or expanded observation: “The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the published literature, except for specific novel findings in 10 gene categories.”
A source describes a new or expanded observation: “Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function and kidney health.”
A source describes a new or expanded observation: “To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybridization on a set of 22 human pancreatic cancer cell lines, using cDNA microarrays measuring approximately 26,000 human genes (thereby providing an...
A source describes a new or expanded observation: “We describe the first example of a recurrent genomic disorder associated with diabetes.”
A source describes a new or expanded observation: “Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-related genes that are potentially involved in the evolution of BE to EAC.”
A source describes a new or expanded observation: “Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.”
A source describes a new or expanded observation: “These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associated with Müllerian aplasia, four cases of microdeletion at 17q12, and one case of a distal 22q11.2 microdeletion.”
A source describes a new or expanded observation: “Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.”
A source describes a new or expanded observation: “To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.”
A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father.”
A source describes a new or expanded observation: “We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case.”
A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features.”
A source describes a new or expanded observation: “Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented.”
A source describes a new or expanded observation: “We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning difficulties.”
A source describes a new or expanded observation: “These changes correspond to putative alternative isoforms-several of which are novel-that are differentially expressed between tumors of varying metastatic phenotypes.”
A source describes a new or expanded observation: “Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remaining candidates have no established link with cancer progression and metastasis and may constitute novel candidates for metastasis diagnosis and therapy.”
A source describes a new or expanded observation: “Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons.”
A source describes a new or expanded observation: “It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast cancer metastasis.”
A source describes a new or expanded observation: “Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas.”
A source describes a new or expanded observation: “Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian Duct Anomalies," Human Reproduction 31, no.”
A source describes a new or expanded observation: “S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies," Fertility and Sterility 94, no.”
A source describes a new or expanded observation: “Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly," Human Reproduction 26, no.”
A source describes a new or expanded observation: “Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European Journal of Obstetrics, Gynecology, and Reproductive Biology 308 (2025): 6-14.”
A source describes a new or expanded observation: “Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a Three‐Generation Family With Renal Hypodysplasia/Aplasia‐3," Orphanet Journal of Rare Diseases 17, no.”
A source describes a new or expanded observation: “D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, no.”
A source describes a new or expanded observation: “S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of Sciences of the United States of America 117, no.”
A source describes a new or expanded observation: “Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease consisting of cirrhosis, diabetes, and skin pigmentation (so-called "bronze diabetes").”
A source describes a new or expanded observation: “(2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is nonetheless, evidence that initiation of phlebotomy before the development of cirrhosis and/or diabetes...
A source describes a new or expanded observation: “(1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is nonetheless, evidence that initiation of phlebotomy before the development of cirrhosis and/or diabetes...
A source describes a new or expanded observation: “A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.”
A source describes a new or expanded observation: “Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).”
A source describes a new or expanded observation: “Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has long been recognized as a concomitant alteration of metabolic disorders(11).”
A source describes a new or expanded observation: “Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor independent of the systemic metabolic state, contributing to the core pathological processes of CKD-including glomerulosclerosis, programmed death of...
A source describes a new or expanded observation: “Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis.”
A source describes a new or expanded observation: “Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HNF1-mediated regulatory networks, providing novel insights into its role in renal lipid metabolic regulation.”
A source describes a new or expanded observation: “This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously promotes cholesterol export and limits exogenous cholesterol uptake, which may represent a novel mechanism for renal lipotoxicity protection.”
A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and therefore in the development of the female reproductive system.”
A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV analysis in a subset of them.”
A source describes a new or expanded observation: “Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12.”
A source describes a new or expanded observation: “Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests that environmental and metabolic modifiers, such as maternal hyperglycemia during pregnancy or underlying metabolic syndrome, may influence disease...