Results 141 to 150 of about 12,422 (262)

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]

, 2017
Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have previously demonstrated that RP can be caused by recessive mutations in the human FAM161A gene, encoding a protein with unknown ...
Arsenijevic, Yvan, Bandah-Rozenfeld, Dikla, Di Gioia, Silvio Alessandro, Hetterschijt, Lisette, Kostic, Corinne, Letteboer, Stef J.F., Rivolta, Carlo, Roepman, Ronald, Sharon, Dror   +8 more
core  

Senior- Loken Syndrome – A Ciliopathy

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2014
Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis.
openaire   +4 more sources

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome

, 2015
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J, Bateman, John F, Bertram, John F, Caruana, Georgina, Dobbie, Michael S, Farlie, Peter G, Freckmann, Mary-Louise, Miller, Kerry A, Pope, Kate, Savarirayan, Ravi, Tan, Tiong Y, Welfare, Megan F   +11 more
core   +1 more source

Novel links between ciliopathies and FGF-related craniofacial syndromes [PDF]

, 2012
Kathy Liu, JT Tabler, HL Szabo-Rogers, Aida Mesbahi, Christopher Healy, William B. Barrell, Bogdan J. Wlodarczyk, JB Wallingford, Richard H. Finnell   +8 more
openalex   +1 more source

Ophthalmologic Manifestations in Bardet–Biedl Syndrome: Emerging Therapeutic Approaches

Medicina
Bardet–Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as
Amaris Rosado, Ediel Rodriguez, Natalio Izquierdo   +2 more
doaj   +1 more source

BBS mutations modify phenotypic expression of CEP290-related ciliopathies [PDF]

, 2013
Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield   +8 more
openalex   +1 more source

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects [PDF]

, 2013
Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson   +6 more
openalex   +1 more source

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]

, 2016
Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits.
Baple, EL, Chioza, BA, Crosby, AH, Dehghan Tezerjani, M, Dehghani, M, Ghadimi, H, Kalantar, SM, Maroofian, R, Nori-Shadkam, M, Vahidi Mehrjardi, MY, Zamaninejad, S   +10 more
core  

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe [PDF]

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly.
Addor, Marie-Claude, Barisic, Ingeborg, Bergman, Jorieke Eh, Boban, Ljubica, Braz, Paula, Calzolari, Elisa, Dolk, Helen, Draper, Elizabeth S, Garne, Ester, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Loane, Maria, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Rinke, Verellen-Dumoulin, Christine, Wellesley, Diana   +18 more
core   +1 more source

Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Frontiers in Molecular Biosciences
IntroductionAdvanced genetic strategies have transformed our understanding of the genetic basis and diagnosis of many phenotypes, including rare diseases.
Macarena Gajardo, José Luis Guerrero, Bárbara Poblete, Esperanza Bayyad, Ignacio Castro, Jorge Maturana, Jaime Tobar, Víctor Faúndes, Paola Krall, Paola Krall, Paola Krall   +10 more
doaj   +1 more source