Results 61 to 70 of about 12,876 (273)

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

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

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +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 ...
Miguel Barroso-Gil, Eric Olinger, John A. Sayer   +2 more
openaire   +3 more sources

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Ciliopathies: an Update [PDF]

Pediatrics Research International Journal, 2015
Cilia are hair-like organelles that extend from the surface of almost all human cells. Nine doublet microtubule pairs make up the core of each cilium, known as the axoneme. Cilia are classified as motile or immotile; non motile or primary cilia are involved in sensing the extracellular environment. These organelles mediate perception of chemo-, mechano-
Alba Faus-Pérez, Amparo Sanchis-Calvo, Pilar Codoñer-Franch   +2 more
openaire   +1 more source

Roles of Primary Cilia in the Developing Brain

Frontiers in Cellular Neuroscience, 2019
Essential to development, primary cilia are microtubule-based cellular organelles that protrude from the surface of cells. Acting as cellular antenna, primary cilia play central roles in transducing or regulating several signaling pathways, including ...
Sang Min Park, Hee Jin Jang, Jeong Ho Lee, Jeong Ho Lee   +3 more
doaj   +1 more source

Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice

G3: Genes, Genomes, Genetics, 2020
Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ...
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen, Alan G. Valdovino Gonzalez, Shelby Wade, Cinny Wong, Eunnie Kim, Hsiang-Hua M. Chen, Alison Ponn, Dorothy Concepcion, Bruce A. Hamilton   +11 more
doaj   +1 more source

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram, Derveaux, Stefaan, Dong, Wes, Dunne, Jude, Hellemans, Jan, Husain, Syed, Lefever, Steve, Vandesompele, Jo   +7 more
core   +2 more sources

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source