Results 31 to 40 of about 12,076 (219)

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. [PDF]

, 2018
Most monogenic cases of obesity in humans have been linked to mutations in genes encoding members of the leptin-melanocortin pathway. Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in ...
A Hinney, A Marley, A Shalata, Aaron Marley, Adelaide A. Bernard, AS Garfield, BA Ersoy, Baran A. Ersoy, C Lubrano-Berthelier, C Lubrano-Berthelier, C Vaisse, C Vaisse, C Vaisse, Christian Vaisse, D Huszar, E Stergiakouli, F Hildebrandt, GA Bishop, GJ Morton, H Fenselau, JA Green, Jacqueline E. Siljee, Jeremy F. Reiter, JF Reiter, JR Davenport, KC Corbit, L Wu, M Calton, Mark Von Zastrow, MJ Krashes, N Balthasar, NF Berbari, P Aanstad, P Acs, SC Goetz, Sumei Zhang, Y Bromberg, Yi Wang, Z Wang   +38 more
core   +1 more source

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
core   +3 more sources

Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies

JCI Insight, 2022
Ciliopathies are a class of genetic diseases resulting in cilia dysfunction in multiple organ systems, including the olfactory system. Currently, there are no available curative treatments for olfactory dysfunction and other symptoms in ciliopathies. The
Chao Xie, Julien C. Habif, Kirill Ukhanov, Cedric R. Uytingco, Lian Zhang, Robert J. Campbell, Jeffrey R. Martens   +6 more
doaj   +1 more source

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

Frontiers in Genetics, 2022
Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in ...
Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna   +5 more
doaj   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +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

Ciliary Genes in Renal Cystic Diseases

Cells, 2020
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska   +1 more
doaj   +1 more source

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

Frontiers in Cell and Developmental Biology, 2021
In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line.
María Álvarez-Satta, María Álvarez-Satta, Mauro Lago-Docampo, Mauro Lago-Docampo, Brais Bea-Mascato, Brais Bea-Mascato, Carlos Solarat, Carlos Solarat, Sheila Castro-Sánchez, Sheila Castro-Sánchez, Søren T. Christensen, Diana Valverde, Diana Valverde   +12 more
doaj   +1 more source