Results 31 to 40 of about 1,250,329 (187)

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

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

A case report of Joubert syndrome with renal involvement and seizures in a neonate

Radiology Case Reports, 2021
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc   +9 more
doaj   +1 more source

Joubert Syndrome and Renal Implication

, 2022
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., Iapadre G., Fiorile M. F., Chimenz R., Ceravolo I., Farello G., Mancuso A., David E., Scorrano G., Conti G., Cuppari C., Fusco M., Emanuele David, Roberto Chimenz, Maria Domenica Ceravolo, Giovanna Scorrano, Maria Francesca Fiorile, Caterina Cuppari, Giovanni Conti, Giulia Iapadre, Ida Ceravolo, Monica Fusco, Alessio Mancuso, Giovanni Farello   +23 more
core   +2 more sources

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

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

, 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, Poretti A, Sukhudyan B, Baumgartner M, Boltshauser E, Korenke GC, Cross E, Christen HJ, Steinlin M, Hethey S, Elton LE   +19 more
core   +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

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

, 2006
Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in
VALENTE EM, CASTORI M, SIGNORINI S, FAZZI, Elisa Maria, BOLTSHAUSER E, DALLAPICCOLA B, LOUIE CM, BRANCATI F, SILHAVY JL, BOCCONE L, BERTINI E, KRISHNASWAMI SR, INTERNATIONAL JOUBERT SYNDROME RELATED DISORDERS STUDY GROUP, LANCASTER MA, GLEESON JG, AL GAZALI L, BARRANO G, BELLACCHIO E   +17 more
core   +2 more sources