Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants
PLoS Genetics, 2019 The primary cilium is a signaling center critical for proper embryonic development. Previous studies have demonstrated that mice lacking Ttc21b have impaired retrograde trafficking within the cilium and multiple organogenesis phenotypes, including ...
David F Paulding +2 more
exaly +7 more sources
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum [PDF]
Nature Genetics, 2011 Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders.
Katarzyna Szymanska +2 more
exaly +9 more sources
TTC21B variants disrupt the left-right asymmetry and pronephric development in zebrafish [PDF]
Genes and DiseasesLinxia Deng +9 more
doaj +6 more sources
Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report [PDF]
Frontiers in Pediatrics, 2021 Monogenic nephrotic syndrome (NS) is associated with a resistance to initial glucocorticoid therapy and causative variants, which may be found in several genes influencing podocyte stability and kidney development.
Martin Bezdíčka +6 more
doaj +4 more sources
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease [PDF]
American Journal of Medical Genetics, Part A, 2021 TTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated with classic ciliopathy syndromes, including nephronophthisis, Jeune asphyxiating ...
Alanna Strong, Hakon Hakonarson
exaly +4 more sources
Transient Nephrotic Syndrome in an Infant With Heterozygous Variants of Uncertain Significance in LMX1B and TTC21B [PDF]
CureusInfantile nephrotic syndrome is rare and frequently associated with an underlying genetic cause. Oligogenic inheritance has been proposed in selected cases, although supporting evidence remains limited.
Alison Greisch, E. Hennaut, K. Ismaili
semanticscholar +3 more sources
Multi‐Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family [PDF]
Molecular Genetics & Genomic MedicineBackground Cranioectodermal dysplasia (CED) is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, and ectodermal anomalies. Significant phenotypic heterogeneity often results in clinical overlap with other skeletal dysplasias,
Deema Aljeaid +4 more
doaj +3 more sources
Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters [PDF]
Children, 2023 Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same ...
Ivana Trutin +2 more
doaj +3 more sources
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B [PDF]
Pediatr Nephrol, 2022 Background Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, postaxial polydactyly, and cognitive impairment with considerable phenotypic heterogeneity. BBS results from
L. Viehl +6 more
semanticscholar +4 more sources
Kidney International ReportsNephronophthisis (NPHP) is a genetically heterogeneous ciliopathy characterized by corticomedullary cyst formation and fibrosis leading to end-stage kidney disease, often associated with extra-renal findings. This study explores the genetic basis of NPHP
Wesley van Hougenhouck-Tulleken +2 more
doaj +3 more sources