Results 81 to 90 of about 2,477,262 (230)
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
American Journal of Medical Genetics. Part A, 2022 Joubert syndrome (JS), a well‐established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features.
Monica Penon-Portmann +13 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Genetic complexity in Joubert syndrome and related disorders
, 2007 The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated with the lethal Meckel syndrome, and two with Senior–Løken syndrome; both of these disorders share Joubert ...
Harris, P.C.
core +1 more source
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
HGG Advances, 2021 Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell ...
Julie C. Van De Weghe +19 more
doaj +1 more source
New insights into CC2D2A-related Joubert syndrome
Journal of Medical Genetics, 2022 Purpose In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A.
Madeleine Harion +35 more
semanticscholar +1 more source
Cilia in Nervous System Development, Function, and Disease
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley +1 more source
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome
, 2007 BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the first three decades of life.
Omran, Heymut +17 more
core +1 more source
Linking differences in personality to demography in the wandering albatross
Oikos, Volume 2026, Issue 6, June 2026.Population dynamics are shaped by individual differences. With a good understanding of the relationships between individual differences and vital rates, population models can be improved to yield more realistic and detailed demographic projections. Personality is expected to shape individual differences in performance.
Joanie Van de Walle +7 more
wiley +1 more source
Joubert Syndrome and Renal Implication
, 2023 Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described.
Ceravolo M. D. +11 more
core +2 more sources