17q12 Kennisbankdeletion syndrome · static snapshot
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Gen–kenmerk-koppeling nieren en urineleider 56 ondersteunende bronnen vertrouwen 97% nieuwheid 62%

Het gen LHX1 komt in 40 artikelen samen met nieren en urineleider voor

In 40 onafhankelijke artikelen komt het gen LHX1 samen met nieren en urineleider voor. Associatiesterkte 0.17..

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:kidney. 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 (4 citaten)

…30; Accepted 2026 Oct 8; Collection date 2026 Oct. 1. Introduction Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder and the leading genetic cause of chronic kidney disease (CKD) in adulthood. Based on comprehensive European registry and population sequenci…
…00 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of gen…
…ng author. Contributed equally. Abstract Kidney disease is increasingly linked to dysregulated lipid metabolism, yet the molecular mechanisms driving renal lipotoxicity remain poorly understood. This review elucidates the pivotal role of the hepatic nuclear factor-1 family (HNF-1α and HNF-1β) in renal li…
…e of genetics in the assessment of CKD cases, stressing the need for thorough family history evaluations, consideration of the age of CKD onset, extrarenal symptoms, and the inclusion of genetic testing in the diagnostic process. 36 This review examines the current and emerging role of LRS in the diagnos…

Ondersteunende documenten (48)

DocumentBronGepubliceerdGezienRelevantie
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 gisteren 1.00
Genetics of CAKUT pmc 2026-01-01 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
HNF1B Transcription Factor: Key Regulator in Renal Physiology and P... pmc 2024-01-01 gisteren 1.00
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 gisteren 1.00
Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küs... pubmed 2017-08-01 gisteren 0.85
Copy number variation and regions of homozygosity analysis in patie... pubmed 2018-01-01 gisteren 1.00
Autism and duplication of 17q12q21.2 by array-CGH: a case report. pubmed 2023-01-01 gisteren 1.00
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: A... pubmed 2026-06-01 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
The genetic etiologies of bilateral renal agenesis pmc 2024-01-01 gisteren 1.00
Decreased T helper 1 cell function underlies recurrent sinopulmonar... 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
Navigating Genetic Testing in Nephrology: Options and Decision-Maki... pmc 2024-01-01 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
Exome analysis links kidney malformations to developmental disorder... pmc 2025-01-01 gisteren 1.00
Etiology and outcomes of fetal renal abnormalities in Southern Chin... pmc 2025-01-01 gisteren 1.00
Cognitive deterioration in patients undergoing hemodialysis: how va... pmc 2025-01-01 gisteren 1.00
Prenatal diagnosis of fetuses with renal abnormalities: a retrospec... pmc 2025-01-01 gisteren 1.00
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
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
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 gisteren 1.00
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 gisteren 1.00
ADVANCING GENETIC TESTING IN KIDNEY DISEASES: REPORT FROM A NATIONA... pmc 2024-01-01 gisteren 1.00
From mutation to symptoms: a multi-center study on HNF1B -related n... 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
A complex microdeletion 17q12 phenotype in a patient with recurrent... pubmed 2012-05-14 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
The Importance of Molecular Testing in the Diagnosis of Genetic Syn... pmc 2026-01-01 gisteren 1.00
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... pmc 2026-01-01 gisteren 1.00
Recurrent, Nonrecurrent, and De Novo Membranous Nephropathy After K... 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
A familial case report of 17q12 recurrent deletion syndrome: clinic... pmc 2026-01-01 gisteren 1.00
Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers ... pmc 2026-01-01 gisteren 1.00
HNF1B -related disease: developmental origins, molecular mechanisms... pmc 2026-01-01 gisteren 1.00
Clinical Spectrum and Early Renal Functional Variability in a Natio... pmc 2026-01-01 gisteren 1.00
Precision Medicine in Pediatric Nephrology: From Shared Clinical Ph... pmc 2026-01-01 gisteren 1.00
Genetic Insights into Pediatric Polycystic Kidney Disease and Overl... pmc 2026-01-01 gisteren 1.00