17q12 Kennisbankdeletion syndrome · static snapshot
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Gen–kenmerk-koppeling nieren en urineleider 39 ondersteunende bronnen vertrouwen 97% nieuwheid 59%

Het gen LHX1 komt in 28 artikelen samen met diabetes en stofwisseling voor

In 28 onafhankelijke artikelen komt het gen LHX1 samen met diabetes en stofwisseling voor. Associatiesterkte 0.14..

Hoe dit tot stand kwam

Gelijktijdig voorkomen is een *waarneming over de literatuur*, geen bewijs van oorzakelijkheid.

Gegenereerd 2026-11-13, laatst gewijzigd vandaag. Dedup-sleutel assoc:LHX1:diabetes_metabolic. De engine controleert dit inzicht bij elke analyse opnieuw; als meer bronnen het eens zijn, stijgen zijn onderbouwing en vertrouwen en verschijnt het opnieuw als “nieuw”.

Bewijs (6 citaten)

Corresponding author. Abstract Introduction Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes characterized by impaired insulin secretion and genetic and clinical heterogeneity. Accurate…
Corresponding author. Contributed equally. Abstract Background Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A…
Monogenic defects of beta cell function refer to a group of rare disorders that are characterized by early-onset diabetes mellitus due to a single gene mutation affecting insulin secretion. It accounts for up to 5% of all pediatric diabetes cases and includes transient o…
…xlx@zju.edu.cn (G.D.); chtang@zju.edu.cn (C.T.); Tel./Fax: +86-571-8706-1007 (C.T.) These authors contributed equally to this work. Abstract Neonatal Diabetes Mellitus (NDM) is a rare, heterogeneous monogenic disorder typically presenting within the first six months of life. Unlike type 1 or type 2 diabetes…
Academic Editor: Andrea Scaramuzza Objective Maturity-onset diabetes of the young (MODY) represents a genetically and clinically heterogeneous form of monogenic diabetes caused by defects in pancreatic β-cell function.…
…nding author. Abstract Context: Mutations in hepatocyte nuclear factor 1B ( HNF1B ) are rare but they are known to cause structural renal disease and diabetes mellitus. There is limited data on pediatric HNF1B disease. Objective: To analyze the clinical characteristics of HNF1B ‐related disease in a cohort…

Ondersteunende documenten (53)

DocumentBronGepubliceerdGezienRelevantie
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pubmed 2025-11-01 gisteren 1.00
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 gisteren 1.00
Atypical presentation of HNF1β gene mutation mimicking type 2 diabe... pmc 2025-01-01 gisteren 1.00
Precision treatment of beta-cell monogenic diabetes: a systematic review pmc 2024-01-01 gisteren 1.00
HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproduc... pmc 2024-01-01 gisteren 1.00
Prenatal diagnosis of 17q12 copy number variants in fetuses via chr... pmc 2024-01-01 gisteren 1.00
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pmc 2024-01-01 gisteren 1.00
Monogenic Defects of Beta Cell Function: From Clinical Suspicion to... pmc 2024-01-01 gisteren 0.45
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 gisteren 1.00
Copy number variation and regions of homozygosity analysis in patie... pubmed 2018-01-01 gisteren 1.00
Maturity-onset diabetes of the young type 5, presenting as diabetic... pubmed 2022-05-01 gisteren 1.00
HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiolo... pubmed 2022-08-01 gisteren 1.00
Autism and duplication of 17q12q21.2 by array-CGH: a case report. pubmed 2023-01-01 gisteren 1.00
Hepatocyte nuclear factor 1B deletion, but not intragenic mutation,... pubmed 2024-01-01 gisteren 1.00
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... pubmed 2024-01-01 gisteren 1.00
Semaglutide as a potential therapeutic alternative for HNF1B-MODY: ... pubmed 2024-01-01 gisteren 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pubmed 2026-01-01 gisteren 1.00
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pmc 2024-01-01 gisteren 1.00
Decreased T helper 1 cell function underlies recurrent sinopulmonar... pmc 2025-01-01 gisteren 1.00
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... pmc 2025-01-01 gisteren 1.00
Case-based learning: a case of maturity-onset diabetes of the young... pmc 2025-01-01 gisteren 1.00
Genetic Predisposition in Müllerian Malformations: A Case Report pmc 2025-01-01 gisteren 1.00
Multi- and Transgenerational Histological and Transcriptomic Outcom... pmc 2025-01-01 gisteren 0.97
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pmc 2025-01-01 gisteren 1.00
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Pren... pmc 2025-01-01 gisteren 1.00
HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report pmc 2025-01-01 gisteren 1.00
Building a human pluripotent stem cell-based gonadal niche: improvi... pmc 2025-01-01 gisteren 0.97
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Ku... pubmed 2012-09-01 gisteren 1.00
TBX6, LHX1 and copy number variations in the complex genetics of Mü... pubmed 2013-08-16 gisteren 1.00
The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review pmc 2025-01-01 gisteren 1.00
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 gisteren 1.00
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 gisteren 1.00
Maternal DNA methylation signatures of gestational diabetes across ... pmc 2025-01-01 gisteren 0.76
Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdele... pmc 2025-01-01 gisteren 1.00
The Genetic Landscape and Precision Medicine in Neonatal Diabetes M... pmc 2026-01-01 gisteren 1.00
A complex microdeletion 17q12 phenotype in a patient with recurrent... pubmed 2012-05-14 gisteren 1.00
Identification of maturity-onset diabetes of the young through targ... pmc 2026-01-01 gisteren 1.00
Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B d... pmc 2026-01-01 gisteren 1.00
Genetic and embryonic transcriptome analyses reveal the molecular a... pmc 2025-01-01 gisteren 1.00
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research A... pmc 2026-01-01 gisteren 1.00
Pediatric Hepatocyte Nuclear Factor 1B ( HNF1B ) Disease: Diabetes ... pmc 2025-01-01 gisteren 1.00
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... pmc 2026-01-01 gisteren 1.00
Transient neonatal diabetes mellitus as an early diagnostic clue to... pmc 2026-01-01 gisteren 1.00
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 pmc 2026-01-01 gisteren 1.00
17q12 deletion syndrome presenting with chronic pancreatitis: a case report pmc 2026-01-01 gisteren 1.00
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... pmc 2026-01-01 gisteren 1.00
A familial case report of 17q12 recurrent deletion syndrome: clinic... pmc 2026-01-01 gisteren 1.00
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childho... pmc 2026-01-01 gisteren 1.00
Insights from maturity-onset diabetes of the young into impaired in... pmc 2026-01-01 gisteren 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pmc 2026-01-01 gisteren 1.00
HNF1B -related disease: developmental origins, molecular mechanisms... pmc 2026-01-01 gisteren 1.00
Treatment Options for Patients with Maturity-Onset Diabetes of the ... pmc 2026-01-01 gisteren 1.00
Syndromic diabetes and hypergonadotropic hypogonadism in a boy with... pmc 2026-01-01 gisteren 1.00