180 related articles for article (PubMed ID: 24268657)
1. Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
Shalata A; Ramirez MC; Desnick RJ; Priedigkeit N; Buettner C; Lindtner C; Mahroum M; Abdul-Ghani M; Dong F; Arar N; Camacho-Vanegas O; Zhang R; Camacho SC; Chen Y; Ibdah M; DeFronzo R; Gillespie V; Kelley K; Dynlacht BD; Kim S; Glucksman MJ; Borochowitz ZU; Martignetti JA
Am J Hum Genet; 2013 Dec; 93(6):1061-71. PubMed ID: 24268657
[TBL] [Abstract][Full Text] [Related]
2. Homozygous mutation in
Yıldız Bölükbaşı E; Mumtaz S; Afzal M; Woehlbier U; Malik S; Tolun A
J Med Genet; 2018 Mar; 55(3):189-197. PubMed ID: 29127258
[TBL] [Abstract][Full Text] [Related]
3. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
Farooqi IS; Yeo GS; Keogh JM; Aminian S; Jebb SA; Butler G; Cheetham T; O'Rahilly S
J Clin Invest; 2000 Jul; 106(2):271-9. PubMed ID: 10903343
[TBL] [Abstract][Full Text] [Related]
4. Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in
Cayir A; Turkyilmaz A; Rabenstein H; Guven F; Karagoz YS; Vuralli D; Wabitsch M; Demirbilek H
Mol Syndromol; 2024 Mar; 15(2):104-113. PubMed ID: 38585545
[TBL] [Abstract][Full Text] [Related]
5. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.
Nishijima Y; Hagiya Y; Kubo T; Takei R; Katoh Y; Nakayama K
Mol Biol Cell; 2017 Jun; 28(12):1652-1666. PubMed ID: 28428259
[TBL] [Abstract][Full Text] [Related]
6. CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme.
Mojarad BA; Gupta GD; Hasegan M; Goudiam O; Basto R; Gingras AC; Pelletier L
Open Biol; 2017 Jun; 7(6):. PubMed ID: 28659385
[TBL] [Abstract][Full Text] [Related]
7. Candidate gene approach of familial morbid obesity: linkage analysis of the glucocorticoid receptor gene.
Clément K; Philippi A; Jury C; Pividal R; Hager J; Demenais F; Basdevant A; Guy-Grand B; Froguel P
Int J Obes Relat Metab Disord; 1996 Jun; 20(6):507-12. PubMed ID: 8782725
[TBL] [Abstract][Full Text] [Related]
8. A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.
Mergen M; Mergen H; Ozata M; Oner R; Oner C
J Clin Endocrinol Metab; 2001 Jul; 86(7):3448. PubMed ID: 11443223
[TBL] [Abstract][Full Text] [Related]
9. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.
Kanie T; Abbott KL; Mooney NA; Plowey ED; Demeter J; Jackson PK
Dev Cell; 2017 Jul; 42(1):22-36.e12. PubMed ID: 28625565
[TBL] [Abstract][Full Text] [Related]
10. Familial aggregation of morbid obesity.
Adams TD; Hunt SC; Mason LA; Ramirez ME; Fisher AG; Williams RR
Obes Res; 1993 Jul; 1(4):261-70. PubMed ID: 16353356
[TBL] [Abstract][Full Text] [Related]
11. Biochemical and anthropometric characterization of morbid obesity in a large Utah pedigree.
Hunt SC; Williams RR; Adams TD
Obes Res; 1995 Sep; 3 Suppl 2():165S-172S. PubMed ID: 8581772
[TBL] [Abstract][Full Text] [Related]
12. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
Pennarun G; Escudier E; Chapelin C; Bridoux AM; Cacheux V; Roger G; Clément A; Goossens M; Amselem S; Duriez B
Am J Hum Genet; 1999 Dec; 65(6):1508-19. PubMed ID: 10577904
[TBL] [Abstract][Full Text] [Related]
13. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Khateb S; Zelinger L; Mizrahi-Meissonnier L; Ayuso C; Koenekoop RK; Laxer U; Gross M; Banin E; Sharon D
J Med Genet; 2014 Jul; 51(7):460-9. PubMed ID: 24780881
[TBL] [Abstract][Full Text] [Related]
14. A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Al-Hassnan ZN; Shinwari ZM; Wakil SM; Tulbah S; Mohammed S; Rahbeeni Z; Alghamdi M; Rababh M; Colak D; Kaya N; Al-Fayyadh M; Alburaiki J
BMC Med Genet; 2016 Jan; 17():3. PubMed ID: 26768247
[TBL] [Abstract][Full Text] [Related]
15. Indication for linkage of the human OB gene region with extreme obesity.
Clement K; Garner C; Hager J; Philippi A; LeDuc C; Carey A; Harris TJ; Jury C; Cardon LR; Basdevant A; Demenais F; Guy-Grand B; North M; Froguel P
Diabetes; 1996 May; 45(5):687-90. PubMed ID: 8621024
[TBL] [Abstract][Full Text] [Related]
16. Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance.
Beckers S; de Freitas F; Zegers D; Verrijken A; Peeters AV; Peiffer F; Verhulst SL; Massa G; Mertens IL; Desager KN; Van Gaal LF; Van Hul W
Eur J Endocrinol; 2011 Jun; 164(6):927-36. PubMed ID: 21441316
[TBL] [Abstract][Full Text] [Related]
17. Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Saeed S; Bonnefond A; Tamanini F; Mirza MU; Manzoor J; Janjua QM; Din SM; Gaitan J; Milochau A; Durand E; Vaillant E; Haseeb A; De Graeve F; Rabearivelo I; Sand O; Queniat G; Boutry R; Schott DA; Ayesha H; Ali M; Khan WI; Butt TA; Rinne T; Stumpel C; Abderrahmani A; Lang J; Arslan M; Froguel P
Nat Genet; 2018 Feb; 50(2):175-179. PubMed ID: 29311637
[TBL] [Abstract][Full Text] [Related]
18. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T; Šošić D; Al-Gazali LI; Erazo M; Casasnovas J; Franco HL; Richardson JA; Olson EN; Cadilla CL; Desnick RJ
Am J Hum Genet; 2010 Aug; 87(2):289-96. PubMed ID: 20691403
[TBL] [Abstract][Full Text] [Related]
19. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A; Chaouch M; Kozlov S; Vallat JM; Tazir M; Kassouri N; Szepetowski P; Hammadouche T; Vandenberghe A; Stewart CL; Grid D; Lévy N
Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
[TBL] [Abstract][Full Text] [Related]
20. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Senderek J; Bergmann C; Stendel C; Kirfel J; Verpoorten N; De Jonghe P; Timmerman V; Chrast R; Verheijen MH; Lemke G; Battaloglu E; Parman Y; Erdem S; Tan E; Topaloglu H; Hahn A; Müller-Felber W; Rizzuto N; Fabrizi GM; Stuhrmann M; Rudnik-Schöneborn S; Züchner S; Michael Schröder J; Buchheim E; Straub V; Klepper J; Huehne K; Rautenstrauss B; Büttner R; Nelis E; Zerres K
Am J Hum Genet; 2003 Nov; 73(5):1106-19. PubMed ID: 14574644
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]