Results 41 to 50 of about 1,250,329 (187)

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

OPTIC DISC DRUSEN MIMICKING PAPILLEDEMA IN AN INFANT WITH JOUBERT SYNDROME

, 2015
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome: Joubert Syndrome is a rare autosomal recessive disorder characterized by absence or underdevelopment of the cerebellar vermis.
Gokben, S., Tekin, H. Gazeteci, Solmaz, A. Ece, Yilmaz, S., Serdaroglu, G., Biler, E. Demirkilinc   +5 more
core   +2 more sources

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil , Shruthi Acharya , Chandni Proothi , Pratichi Tripathi , Aditi Tamrakar, Ravindranath Vineetha   +5 more
doaj  

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome [PDF]

, 2014
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert
Stefano Castellana, Darra, Francesca, Gouider Khouja, Neziha, Romani, Marta, Mazza, Tommaso, Rosario Ruta, Francesca Darra, DOTTI, MARIA, Castellana, Stefano, Alessia Micalizzi, Dotti, Maria Teresa, Neziha Gouider Khouja, László Sztriha, Ichraf Kraoua, Hanene, Benrhouma, Enza Valente, Micalizzi, Alessia, Sztriha, László, Alíz Zimmermann, Marta Romani, Valente, Enza Maria, Francesca Mancini, Kraoua, Ichraf, Maria Dotti, Mara Cavallin, Neziha Gouider-Khouja, MANCINI, FRANCESCA MARIA, Mancini, Francesca, Adrienn Máté, Zimmermann, Alíz, Tommaso Mazza, Benrhouma Hanene, Ruta, Rosario, Maria Carluccio, Máté, Adrienn, Cavallin, Mara, CARLUCCIO, MARIA ALESSANDRA   +36 more
core   +1 more source

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report

Radiology Case Reports
Joubert syndrome is a rare congenital cerebral developmental malformation that primarily affects the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign) on a transverse
Tsega Hagos Mehari, MD, Bemnet Mengesha Tessema, MD, Redaie Girmay Gebrekidan, MD   +2 more
doaj   +1 more source

Protein Glutamylation: From Cytoskeleton to Signaling

Med Research, EarlyView.
Tubulin glutamylation, γ‐glutamylation, and nontubulin glutamylation are distinct yet interconnected post‐translational modifications that regulate diverse physiological and pathological processes, including cytoskeletal organization, cell cycle progression, immunity, metabolism, and disease development.
Jiayuan Chen, Yi Yuan, Qingquan Yu, Xinyue Wang, Hui Wang   +4 more
wiley   +1 more source

Signe de àla dent molaire à: aspect caractéristique en IRM du syndrome de Joubert

The Pan African Medical Journal, 2015
Le syndrome de Joubert est une affection génétique rare, de transmission autosomique récessive, caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires ...
Manel Jellouli, Tahar Gargah
doaj   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, Volume 13, Issue 58, 19 October 2026.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source