Results 71 to 80 of about 8,699 (199)
An elusive ciliopathy: Joubert syndrome [PDF]
BMJ Case Reports, 2017 The police brought a 65-year-old female patient to the EADU after being found ‘roaming the streets’ in an apparent state of confusion. This was her third admission under the same circumstances during the last 3 years. Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular ...
Carlo, Canepa +2 more
openaire +2 more sources
Clinical Case Reports, 2023 Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci +7 more
doaj +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy
Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Frontiers in Pediatrics, 2014 The evaluation and treatment of the heterogeneous group of pediatric kidney diseases poses a challenging field in pediatrics. Many of the pediatric disorders resulting in severe renal affection are exceedingly rare and therapeutic approaches have ...
Max Christoph Liebau +1 more
doaj +1 more source
Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria +1 more
wiley +1 more source
Complexité génétique des ciliopathies et identification de nouveaux gènes [PDF]
, 2014 Ciliopathies are a large group of human disorders caused by dysfunction of primary or motile cilia and unified by their overlapping clinical features (brain malformations, retinal dystrophy, cystic kidney disease, liver fibrosis and skeletal ...
Bachmann-Gagescu, Ruxandra; https://orcid.org/ +1 more
core +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
Developmental disruptions underlying brain abnormalities in ciliopathies
, 2015 Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral cortical progenitors and neurons have a primary cilium.
Hirt, Josua +13 more
core +1 more source
Alström syndrome: current perspectives
The Application of Clinical Genetics, 2015 María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M +2 more
doaj
Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models
eLife, 2020 Defective primary cilia cause a range of diseases known as ciliopathies, including hearing loss. The etiology of hearing loss in ciliopathies, however, remains unclear.
Kyeong-Hye Moon +6 more
doaj +1 more source