| Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin. | Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin.
Kim NH, Lee CH, Lee AY., Free PMC Article | 01/11/2024 |
| A ciliopathy complex builds distal appendages to initiate ciliogenesis. | A ciliopathy complex builds distal appendages to initiate ciliogenesis.
Kumar D, Rains A, Herranz-Pérez V, Lu Q, Shi X, Swaney DL, Stevenson E, Krogan NJ, Huang B, Westlake C, Garcia-Verdugo JM, Yoder BK, Reiter JF., Free PMC Article | 11/13/2021 |
| Indian child with novel variant in OFD1 gene. | Indian child with novel variant in OFD1 gene.
Panigrahi I, Ahuja C, Chaudhry C. | 06/5/2021 |
| A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. | A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y. | 02/6/2021 |
| The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. | The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
Alfieri M, Iaconis D, Tammaro R, Perone L, Calì G, Nitsch L, Dougherty GW, Ragnini-Wilson A, Franco B. | 12/19/2020 |
| s clinicians consider the presence or absence of conditions allelic at OFD1, PCD should be considered part of the spectrum of OFD1-related disorders. Understanding the OFD1-related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae. | The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA., Free PMC Article | 06/20/2020 |
| Truncations of the C-terminal part of OFD1 (exons 16-22) almost invariably cause a respiratory phenotype. | Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.
Bukowy-Bieryllo Z, Rabiasz A, Dabrowski M, Pogorzelski A, Wojda A, Dmenska H, Grzela K, Sroczynski J, Witt M, Zietkiewicz E. | 06/20/2020 |
| this is the first clinical report of a live born male with JS and OFD features secondary to a novel pathogenic variant in OFD1 gene that resulted in a complete pituitary aplasia and subsequent severe hypoplasia of peripheral endocrine glands. | A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ. | 06/13/2020 |
| Total OFD1 mRNA in the index fetus was significantly lower than the control. | Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L., Free PMC Article | 04/13/2019 |
| OFD1 mutation is associated with Oral-facial-digital syndrome type 1. | Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K. | 03/23/2019 |
| Talpid3, C2CD3, and OFD1 differentially regulate the assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19 module, centriolar satellites, and actin networks. | A distal centriolar protein network controls organelle maturation and asymmetry.
Wang L, Failler M, Fu W, Dynlacht BD., Free PMC Article | 02/2/2019 |
| The authors demonstrate that OFD1 cooperates with the mRNA binding protein Bicc1 to functionally control the protein synthesis machinery at the centrosome where also the PIC and eIF4F components were shown to localize in mammalian cells. | The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.
Iaconis D, Monti M, Renda M, van Koppen A, Tammaro R, Chiaravalli M, Cozzolino F, Pignata P, Crina C, Pucci P, Boletta A, Belcastro V, Giles RH, Surace EM, Gallo S, Pende M, Franco B., Free PMC Article | 09/8/2018 |
| In our study, we identified a novel OFD1 mutation c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with phenotypes of JBTS. The de-novo OFD1 mutation in exon 21 of OFD1 results in a frameshift and a substitution of Arg to Lys at the 948th amino-acid residue, generating a prematurely truncated protein. | Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. | 12/2/2017 |
| Loss of OFD1 expression is associated with Oral-facial-digital syndrome type I. | Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O'Driscoll M. | 09/30/2017 |
| The underlying pathogenesis of CHD in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development. | Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
Bouman A, Alders M, Oostra RJ, van Leeuwen E, Thuijs N, van der Kevie-Kersemaekers AM, van Maarle M., Free PMC Article | 05/13/2017 |
| polycystins are necessary for assembly of a novel flotillin-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations. | OFD1 and flotillins are integral components of a ciliary signaling protein complex organized by polycystins in renal epithelia and odontoblasts.
Jerman S, Ward HH, Lee R, Lopes CA, Fry AM, MacDougall M, Wandinger-Ness A., Free PMC Article | 05/30/2015 |
| OFD1 regulation and primary cilium formation are defective in autophagy-deficient cells | Self-eating to remove cilia roadblock.
Tang Z, Zhu M, Zhong Q., Free PMC Article | 11/22/2014 |
| loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. | Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N., Free PMC Article | 06/21/2014 |
| Novel OFD1 mutations have been identified in males with orofaciodigital syndromes and ciliary basal body docking impairment. | OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T. | 01/4/2014 |
| Identification of a causative splicing mutation in OFD1, through exome sequencing, in a family with three males having an 'unclassified' X-linked lethal congenital malformation syndrome. | Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. | 09/21/2013 |
| Data indicate that although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patient. | Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ., Free PMC Article | 07/6/2013 |
| Deep intronic mutation in OFD1 causes a severe form of X-linked retinitis pigmentosa. | Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ., Free PMC Article | 02/9/2013 |
| Sequence deletion in OFD1 has been identified as the cause of X-linked Joubert syndrome. | Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J., Free PMC Article | 10/13/2012 |
| A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in proband, her mother, and her sister. All 3 women had similar oral phenotype; new mutation might be involved in development of OFD1 oral manifestations. | A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.
Diz P, Alvarez-Iglesias V, Feijoo JF, Limeres J, Seoane J, Tomás I, Carracedo A. | 12/10/2011 |
| Documentation of OFD I mutations, extreme beading of the intrahepatic bile ducts and pancreatic cysts of patients having hepatic, pancreatic, and renal cystic disease. | Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer RE, Heller T, Gahl WA, Gunay-Aygun M., Free PMC Article | 11/27/2010 |