Results 71 to 80 of about 12,422 (262)

A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

Clinics and Practice, 2015
Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar, Vinay Zanwar, Ashok Mohite, Ravindra Surude, Pravin Rathi, Meenakshi Balasubramani   +5 more
doaj   +1 more source

On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies

Frontiers in Cell and Developmental Biology, 2021
Ciliopathies are a group of heterogeneous inherited disorders associated with dysfunction of the cilium, a ubiquitous microtubule-based organelle involved in a broad range of cellular functions. Most ciliopathies are syndromic, since several organs whose
Laura Sánchez-Bellver, Laura Sánchez-Bellver, Vasileios Toulis, Vasileios Toulis, Gemma Marfany, Gemma Marfany, Gemma Marfany   +6 more
doaj   +1 more source

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +2 more sources

Ciliary Hedgehog signaling regulates cell survival to build the facial midline

eLife, 2021
Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood.
Shaun R Abrams, Jeremy F Reiter
doaj   +1 more source

Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly

Cytoskeleton, EarlyView.
ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley   +1 more source

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P, Coussa, R G, Faingold, R, Fu, Q, Gee, H‐y, Hildebrandt, F, Keser, V, Khan, A, Koenekoop, R K, Lopez, I, Majewski, J, Otto, E A, Ren, H, Schwartzentruber, J   +13 more
core   +1 more source

Molecular genetics of renal ciliopathies

Biochemical Society Transactions, 2021
Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and ...
John A. Sayer, John A. Sayer, Miguel Barroso-Gil, Eric Olinger   +3 more
openaire   +4 more sources

Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development

Developmental Dynamics, EarlyView.
Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N. Chaudhry, Sylvia N. Michki, Jocelynda Salvador, M. Luisa Iruela‐Arispe, Jarod A. Zepp, Saikat Mukhopadhyay, Ondine Cleaver   +8 more
wiley   +1 more source

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]

, 2015
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Aza-Blac, P, Azam, M, Bertini, E, Boltshauser, E, Borgatti, R, Boustany, RM, Clericuzio, CL, Copeland, B, D Arrigo, S, Dobyns, WB, Dynlacht, BD, Emma, F, Freilinger, M, Gabriel, SB, Gleeson, JG, Heynen, SG, Hildebrandt, F, Hofree, M, Ideker, T, İncecik, F, Johnson, CA, Kim, J, Kim, S, Lee, JE, Mazza, T, Miccinilli, E, Mikati, M, Milisa-Drautz, J, Mirabelli-Badenier, M, Moroni, I, Romani, M, Romaniello, R, Roosing, S, Rosti, RO, Schroth, J, Scott, E, Silhavy, JL, Stanzial, F, Steinlin, M, Strømme, P, Swoboda, KJ, Valente, EM, Valente, EM, Vaux, KK, Zaki, MS   +44 more
core   +10 more sources