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searching for Ciliopathy 16 found (58 total)

alternate case: ciliopathy

CC2D2A (611 words) [view diff] exact match in snippet view article find links to article

"Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle". Am. J. Hum. Genet. 82 (6): 1361–7. doi:10.1016/j.ajhg.2008.05

Retinitis pigmentosa GTPase regulator (2,273 words) [view diff] exact match in snippet view article find links to article

Rao KN, Zhang W, Li L, Anand M, Khanna H (2016b) Prenylated retinal ciliopathy protein RPGR interacts with PDE6delta and regulates ciliary localization

Sensenbrenner syndrome (897 words) [view diff] exact match in snippet view article find links to article

AW (2010). "Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene". Am. J. Hum. Genet. 86 (6): 949–56

Geminin coiled-coil domain-containing protein 1 (602 words) [view diff] exact match in snippet view article find links to article

proliferation. Reduced Generation of Multiple Motile Cilia (RGMC) is a rare ciliopathy characterized by hydrocephalus, the buildup of mucus in the airways, and

Tetratricopeptide repeat domain 21b (529 words) [view diff] exact match in snippet view article find links to article

transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided

Sharon Moalem (2,250 words) [view diff] exact match in snippet view article find links to article

SRY-negative XX male sex reversal as well as a nephronopthisis associated ciliopathy. His research led to the discovery of a new class of antibiotics that

MKS1 (760 words) [view diff] exact match in snippet view article find links to article

Inglis PN, Li C, et al. (2009). "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related

SDCCAG8 (480 words) [view diff] exact match in snippet view article find links to article

ciliopathies. SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies. ENSG00000276111

CENPF (1,346 words) [view diff] exact match in snippet view article find links to article

Patrick (March 2015). "The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes". Journal of Medical Genetics. 52 (3): 147–156

FOXJ1 (1,996 words) [view diff] exact match in snippet view article find links to article

et al. (November 2019). "De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry". American

Stanislas Lyonnet (884 words) [view diff] exact match in snippet view article find links to article

mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet 2011, in press. Citations Professor Stanislas Lyonnet

Ataxin 10 (850 words) [view diff] exact match in snippet view article find links to article

et al. (May 2011). "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways". Cell. 145 (4): 513–28. doi:10.1016/j.cell

SOFT syndrome (906 words) [view diff] exact match in snippet view article find links to article

Alshammari MJ, et al. (August 2012). "POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism". American Journal of Human

RVxP motif (1,462 words) [view diff] exact match in snippet view article find links to article

Kremer, H. (16 November 2012). "Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to

Wei Yan (biologist) (3,220 words) [view diff] exact match in snippet view article

led to a novel concept that efferent ductal obstructions due to motile ciliopathy represent a new cause of male infertility, which has been validated in

Folliculin (5,618 words) [view diff] exact match in snippet view article find links to article

van Steensel MA (November 2013). "Birt-Hogg-Dube syndrome is a novel ciliopathy". Human Molecular Genetics. 22 (21): 4383–97. doi:10.1093/hmg/ddt288.