ArticleAmerican journal of human genetics2017
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 114 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Prenatal Diagnosis and Genomics in India - Historical Review, Current Status and Road Ahead.Indian journal of pediatrics · 2026Review
- Review
- Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing.Human genomics · 2026Article
- A rare case of concurrent renal agenesis and Ectopia in a feline system.Open veterinary journal · 2026Article
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Human organoids for rapid validation of gene variants linked to cochlear malformations.Human genetics · 2025Article
- Case report of a novelJournal of otology · 2025Article
- Trio Exome Sequencing in VACTERL Association.Kidney international reports · 2025Article
- Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations.Research square · 2024Article
- The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.Prenatal diagnosis · 2024Article
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- GREB1L overexpression is associated with good clinical outcomes in breast cancer.European journal of medical research · 2023Article
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Article
- Genomic Scan for Runs of Homozygosity and Selective Signature Analysis to Identify Candidate Genes in Large White Pigs.International journal of molecular sciences · 2023Article
- Epithelial and mesenchymal fate decisions in Wolffian duct development.Trends in endocrinology and metabolism: TEM · 2023Review
- Vitamin A and retinoid signaling in the kidneys.Pharmacology & therapeutics · 2023Review
Corrections and comments
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Authors and funding
31 authors at 20 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling. Four loss-of-function and 12 damaging missense variants, 14 being absent from GnomAD, were identified. Twelve of them were present in familial or simplex BKA-affected case subjects. Female BKA-affected fetuses also displayed uterus agenesis. We demonstrated a significant association between GREB1L variants and BKA. By in situ hybridization, we showed expression of Greb1l in the nephrogenic zone in developing mouse kidney. We generated a Greb1l knock-out mouse model by CRISPR-Cas9. Analysis at E13.5 revealed lack of kidneys and genital tract anomalies in male and female Greb1l
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.