Results 141 to 150 of about 12,876 (273)

Remodeling Cildb, a popular database for cilia and links for ciliopathies [PDF]

, 2014
Olivier Arnaiz, Jean Cohen, Anne‐Marie Tassin, France Koll   +3 more
openalex   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science
Cilia are microtubule‐based organelles that extend from the surface of most vertebrate cells, and they play important roles in diverse cellular processes during embryonic development and tissue homeostasis.
Jie Ran, Jun Zhou
doaj   +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

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

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  

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans [PDF]

, 2019
Ranad Shaheen, Nan Jiang, Fatema Alzahrani, Nour Ewida, Tarfa Al‐Sheddi, Eman Alobeid, Damir Musaev, Valentina Stanley, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Abduljabbar Alshenqiti, Fatma Müjgan Sönmez, Nadia Saqati, Hamad Alzaidan, Mohammad M. Al‐Qattan, Futwan Al‐Mohanna, Joseph G. Gleeson, Fowzan S. Alkuraya   +18 more
openalex   +1 more source

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene [PDF]

, 2017
Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable.
Abdel-Salam, Ghada, Altmüller, Janine, Boltshauser, Eugen, Bolz, Hanno J., Ebermann, Inga, Elsayed, Solaf M., Elsobky, Ezzat, Gleeson, Joseph, Heller, Raoul, Hu, Xue-Jia, Körber, Friederike, Nürnberg, Gudrun, Nürnberg, Peter, Phillips, Jennifer B., Seland, Saskia, Thiele, Holger, Thoenes, Michaela, Toliat, Mohammad, Westerfield, Monte, Wu, Yun-Dong, Zaki, Maha S.   +20 more
core  

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers [PDF]

, 2011
Maha S. Zaki, Shifteh Sattar, Rustin Massoudi, Joseph G. Gleeson   +3 more
openalex   +1 more source

Ciliopathy

Nihon Shoni Jinzobyo Gakkai Zasshi, 2012
Koichi Nakanishi, Norishige Yoshikawa
openaire   +2 more sources