209 related articles for article (PubMed ID: 26044959)
1. Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.
Schock EN; Chang CF; Struve JN; Chang YT; Chang J; Delany ME; Brugmann SA
Dis Model Mech; 2015 Aug; 8(8):855-66. PubMed ID: 26044959
[TBL] [Abstract][Full Text] [Related]
2. The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.
Chang CF; Schock EN; O'Hare EA; Dodgson J; Cheng HH; Muir WM; Edelmann RE; Delany ME; Brugmann SA
Development; 2014 Aug; 141(15):3003-12. PubMed ID: 25053433
[TBL] [Abstract][Full Text] [Related]
3. Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling.
Bonatto Paese CL; Brooks EC; Aarnio-Peterson M; Brugmann SA
Development; 2021 Feb; 148(4):. PubMed ID: 33589509
[TBL] [Abstract][Full Text] [Related]
4. Utilizing the chicken as an animal model for human craniofacial ciliopathies.
Schock EN; Chang CF; Youngworth IA; Davey MG; Delany ME; Brugmann SA
Dev Biol; 2016 Jul; 415(2):326-337. PubMed ID: 26597494
[TBL] [Abstract][Full Text] [Related]
5. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Thauvin-Robinet C; Lee JS; Lopez E; Herranz-Pérez V; Shida T; Franco B; Jego L; Ye F; Pasquier L; Loget P; Gigot N; Aral B; Lopes CA; St-Onge J; Bruel AL; Thevenon J; González-Granero S; Alby C; Munnich A; Vekemans M; Huet F; Fry AM; Saunier S; Rivière JB; Attié-Bitach T; Garcia-Verdugo JM; Faivre L; Mégarbané A; Nachury MV
Nat Genet; 2014 Aug; 46(8):905-11. PubMed ID: 24997988
[TBL] [Abstract][Full Text] [Related]
6. The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation.
Yin Y; Bangs F; Paton IR; Prescott A; James J; Davey MG; Whitley P; Genikhovich G; Technau U; Burt DW; Tickle C
Development; 2009 Feb; 136(4):655-64. PubMed ID: 19144723
[TBL] [Abstract][Full Text] [Related]
7. Centriolar Protein C2cd3 Is Required for Craniofacial Development.
Chang CF; Brown KM; Yang Y; Brugmann SA
Front Cell Dev Biol; 2021; 9():647391. PubMed ID: 34211969
[TBL] [Abstract][Full Text] [Related]
8. The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.
Hunkapiller J; Singla V; Seol A; Reiter JF
Stem Cells Dev; 2011 May; 20(5):831-41. PubMed ID: 20873986
[TBL] [Abstract][Full Text] [Related]
9. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A; Vitiello G; Hennekam RC; Arrigoni F; Bertini E; Borgatti R; Brancati F; D'Arrigo S; Faravelli F; Giordano L; Huisman TA; Iannicelli M; Kluger G; Kyllerman M; Landgren M; Lees MM; Pinelli L; Romaniello R; Scheer I; Schwarz CE; Spiegel R; Tibussek D; Valente EM; Boltshauser E
Orphanet J Rare Dis; 2012 Jan; 7():4. PubMed ID: 22236771
[TBL] [Abstract][Full Text] [Related]
10. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Boczek NJ; Hopp K; Benoit L; Kraft D; Cousin MA; Blackburn PR; Madsen CD; Oliver GR; Nair AA; Na J; Bianchi DW; Beek G; Harris PC; Pichurin P; Klee EW
Eur J Hum Genet; 2018 Dec; 26(12):1797-1809. PubMed ID: 30097616
[TBL] [Abstract][Full Text] [Related]
11. 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
Am J Med Genet A; 2017 May; 173(5):1383-1389. PubMed ID: 28371265
[TBL] [Abstract][Full Text] [Related]
12. 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
Hum Mol Genet; 2017 Jan; 26(1):19-32. PubMed ID: 27798113
[TBL] [Abstract][Full Text] [Related]
13. Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes.
Tabler JM; Barrell WB; Szabo-Rogers HL; Healy C; Yeung Y; Perdiguero EG; Schulz C; Yannakoudakis BZ; Mesbahi A; Wlodarczyk B; Geissmann F; Finnell RH; Wallingford JB; Liu KJ
Dev Cell; 2013 Jun; 25(6):623-35. PubMed ID: 23806618
[TBL] [Abstract][Full Text] [Related]
14. Atavisms in the avian hindlimb and early developmental polarity of the limb.
Bonatto Paese CL; Hawkins MB; Brugmann SA; Harris MP
Dev Dyn; 2021 Sep; 250(9):1358-1367. PubMed ID: 33605505
[TBL] [Abstract][Full Text] [Related]
15. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL; Franco B; Duffourd Y; Thevenon J; Jego L; Lopez E; Deleuze JF; Doummar D; Giles RH; Johnson CA; Huynen MA; Chevrier V; Burglen L; Morleo M; Desguerres I; Pierquin G; Doray B; Gilbert-Dussardier B; Reversade B; Steichen-Gersdorf E; Baumann C; Panigrahi I; Fargeot-Espaliat A; Dieux A; David A; Goldenberg A; Bongers E; Gaillard D; Argente J; Aral B; Gigot N; St-Onge J; Birnbaum D; Phadke SR; Cormier-Daire V; Eguether T; Pazour GJ; Herranz-Pérez V; Goldstein JS; Pasquier L; Loget P; Saunier S; Mégarbané A; Rosnet O; Leroux MR; Wallingford JB; Blacque OE; Nachury MV; Attie-Bitach T; Rivière JB; Faivre L; Thauvin-Robinet C
J Med Genet; 2017 Jun; 54(6):371-380. PubMed ID: 28289185
[TBL] [Abstract][Full Text] [Related]
16. Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies.
Bonatto Paese CL; Chang CF; Kristeková D; Brugmann SA
Dis Model Mech; 2022 Aug; 15(8):. PubMed ID: 35818799
[TBL] [Abstract][Full Text] [Related]
17. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
Chevrier V; Bruel AL; Van Dam TJ; Franco B; Lo Scalzo M; Lembo F; Audebert S; Baudelet E; Isnardon D; Bole A; Borg JP; Kuentz P; Thevenon J; Burglen L; Faivre L; Rivière JB; Huynen MA; Birnbaum D; Rosnet O; Thauvin-Robinet C
Hum Mol Genet; 2016 Feb; 25(3):497-513. PubMed ID: 26643951
[TBL] [Abstract][Full Text] [Related]
18. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?
Morán-Barroso V; Valdés Flores M; García-Cavazos R; Kofman-Alfaro S; Saavedra-Ontiveros D
Clin Dysmorphol; 1998 Jan; 7(1):55-7. PubMed ID: 9546832
[TBL] [Abstract][Full Text] [Related]
19. The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning.
Brooks EC; Han SJY; Bonatto Paese CL; Lewis AA; Aarnio-Peterson M; Brugmann SA
Differentiation; 2024 May; 138():100782. PubMed ID: 38810379
[TBL] [Abstract][Full Text] [Related]
20. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG; Shboul M; Elrod ND; Colleaux L; Hamamy H; Huang KL; Peart N; Singh MK; Lee H; Merriman B; Jodoin JN; Sitaram P; Lee LA; Fathalla R; Al-Rawashdeh B; Ababneh O; El-Khateeb M; Escande-Beillard N; Nelson SF; Wu Y; Tong L; Kenney LJ; Roy S; Russell WK; Amiel J; Reversade B; Wagner EJ
Nat Commun; 2022 Oct; 13(1):6054. PubMed ID: 36229431
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]