Results 51 to 60 of about 2,477,262 (230)

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

Cell Reports, 2019
Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood.
Kari-Anne M. Frikstad, Elisa Molinari, Marianne Thoresen, Simon A. Ramsbottom, Frances Hughes, Stef J.F. Letteboer, Sania Gilani, Kay O. Schink, Trond Stokke, Stefan Geimer, Lotte B. Pedersen, Rachel H. Giles, Anna Akhmanova, Ronald Roepman, John A. Sayer, Sebastian Patzke   +15 more
doaj   +1 more source

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

Genes, 2023
The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features.
Rute Luísa Cabrita Pinto, S. Viaggi, Edoardo Canale, Marina Martinez Popple, V. Capra, G. Conteduca, B. Testa, D. Coviello, A. Covone   +8 more
semanticscholar   +1 more source

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

BMC Medical Genetics, 2020
Background Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular ...
Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh   +6 more
doaj   +1 more source

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics, 2020
Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia   +11 more
doaj   +1 more source

Molar tooth sign − looking beyond the obvious

South African Journal of Radiology, 2013
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
doaj   +1 more source

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Journal of Medical Genetics, 2021
Background Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem ...
Valentina Serpieri, F. D’Abrusco, J. Dempsey, Y. H. Cheng, F. Arrigoni, Janice Baker, R. Battini, E. Bertini, R. Borgatti, Angela K. Christman, C. Curry, S. D'Arrigo, J. Fluss, M. Freilinger, S. Gana, G. Ishak, V. Leuzzi, Hailey Loucks, F. Manti, N. Mendelsohn, L. Merlini, Caitlin V. Miller, Ansar Muhammad, S. Nuovo, R. Romaniello, W. Schmidt, S. Signorini, S. Siliquini, K. Szczałuba, G. Vasco, Meredith Wilson, G. Zanni, E. Boltshauser, D. Doherty, E. Valente   +34 more
semanticscholar   +1 more source

Horizontal head titubation in infants with Joubert syndrome: a new finding

, 2014
AIM Head thrusts are well documented in Joubert syndrome and ocular motor apraxia. We provide a detailed clinical characterization of head titubation in 13 young children with Joubert syndrome. METHOD Detailed characterization of head titubation
Boltshauser, Eugen, Poretti, Andrea, Christen, Hans-Jürgen, Baumgartner, Manuela, Korenke, Georg Christoph, Hethey, Sven, Sukhudyan, Biayna, Cross, Elizabeth, Steinlin, Maja, Elton, Lindsay E   +9 more
core   +1 more source

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

Frontiers in Genetics, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz, C. Hofmann, R. Bachmann-Gagescu   +2 more
semanticscholar   +1 more source

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

Cell and Tissue Research
Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the “molar tooth sign.” Over 40 ...
R. De Mori, Silvia Tardivo, L. Pollara, S. Giliani, E. Ali, L. Giordano, V. Leuzzi, R. Fischetto, B. Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, V. Sottile, E. M. Valente   +13 more
semanticscholar   +1 more source

Jobert syndrome ‘’ a rare cause of liver dysfunction’’

The Turkish Journal of Gastroenterology, 2019
INTRODUCTION: Joubert syndrome is an autosomal recessive inherited disease with no specific gene mutation. Diagnosis is made by the evaluation of clinical and radiological findings.
Salih Kılıç, Abdullah Mübin Özercan, Mehmet Yalnız, Ibrahim Halil Bahçecioğlu   +3 more
doaj   +1 more source