A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature [PDF]
Molecular Genetics & Genomic Medicine, 2022 Background Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic
Zhijian Li, Xin Wang
exaly +7 more sources
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants [PDF]
Molecular Genetics & Genomic MedicineBackground Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation ...
Liying Dai
exaly +7 more sources
Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration [PDF]
Journal of Developmental Biology, 2017 Proper cerebellar development is dependent on tightly regulated proliferation, migration, and differentiation events. Disruptions in any of these leads to a range of cerebellar phenotypes from ataxia to childhood tumors.
Rolf W Stottmann
exaly +9 more sources
Molecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT [PDF]
Frontiers in GeneticsObjectiveTo elucidate the pathogenic mechanism of nephronophthisis type 12 (NPHP12) caused by compound heterozygous mutations in the TTC21B gene and to implement preimplantation genetic testing (PGT) for clinical prevention.MethodsWe retrospectively ...
Liyi Cai
exaly +7 more sources
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease [PDF]
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2022 Monogenic disorders of the kidney typically affect either the glomerular or tubulointerstitial compartment producing a distinct set of clinical phenotypes.
Holly Mabillard +2 more
exaly +7 more sources
Ttc21b is required for proper proliferation of neural progenitor cells [PDF]
Disease Models & MechanismsPrimary cilia play a pivotal role in cellular signaling and development. Human primary microcephaly is strongly associated with pathogenic variants in primary cilia genes. Here, we examine the role of Ttc21b, a component of the intraflagellar transport-A
Rebekah Niewoehner +4 more
doaj +6 more sources
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes [PDF]
Human Genomics, 2022 Background Abnormalities in cilia ultrastructure and function lead to a range of human phenotypes termed ciliopathies. Many tetratricopeptide repeat domain (TTC) family members have been reported to play critical roles in cilium organization and function.
Weicheng Chen +6 more
doaj +5 more sources
Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review [PDF]
Frontiers in Medicine, 2021 Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations. Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the TTC21B gene.Case Description: A 47-year-old patient started hemodialysis ...
Martina Marangoni +2 more
exaly +6 more sources
Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner [PDF]
Kidney International, 2022 Primary cilia are sensory organelles built and maintained by intraflagellar transport (IFT) multiprotein complexes. Deletion of several IFT-B genes attenuates polycystic kidney disease (PKD) severity in juvenile and adult autosomal dominant polycystic ...
Tana S Pottorf +2 more
exaly +5 more sources
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria [PDF]
Renal FailureWhile nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotypes of pediatric NPHP patients with different levels of
Qiuxia Chen +6 more
doaj +3 more sources