Results 71 to 80 of about 12,076 (219)

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
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, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies [PDF]

, 2016
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration.
Cheetham, ME, Coffey, PJ, Hardcastle, AJ, Jovanovic, K, Lane, A, Parfitt, DA, Ramsden, C   +6 more
core   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
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, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Primary cilia and actin regulatory pathways in renal ciliopathies

Frontiers in Nephrology
Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Rita Kalot, Rita Kalot, Zachary Sentell, Thomas M. Kitzler, Thomas M. Kitzler, Elena Torban, Elena Torban   +6 more
doaj   +1 more source

Growth‐regulating proteins differ between British seawater fish species, shedding light on their ecological adaptations

Journal of Fish Biology, EarlyView.
Abstract Wnt proteins are a family of molecules that help control how cells grow, develop and communicate – processes that are fundamental to the development and health of all animals. Although Wnt pathways have been studied extensively in model species, very little is known about how they operate in marine fish.
Angeliki Maravelia, Soniya Malik, Clare Murcott, Ioannis Batzakas, Paraskevi Goggolidou   +4 more
wiley   +1 more source

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, Ben, Burton, Abdul, Muhith   +2 more
openaire   +2 more sources

Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila

eLife, 2019
Cilia and flagella are conserved eukaryotic organelles essential for cellular signaling and motility. Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the transition zone (TZ), a complex structure of the ciliary
Jean-André Lapart, Marco Gottardo, Elisabeth Cortier, Jean-Luc Duteyrat, Céline Augière, Alain Mangé, Julie Jerber, Jérôme Solassol, Jay Gopalakrishnan, Joëlle Thomas, Bénédicte Durand   +10 more
doaj   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

Hedgehog Signal and Genetic Disorders

Frontiers in Genetics, 2019
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and ...
Noriaki Sasai, Michinori Toriyama, Michinori Toriyama, Toru Kondo   +3 more
doaj   +1 more source