Citations for
1DDX54, DHX16, DHX34, DHX37, DHX38, NDDNA, NDDNA2, NDDNA3, NDDRA, RP84
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.
Am J Hum Genet 105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. 2019
2DHX37, GDTRS
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A.
Genet Med enet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0606-y. [Epub ahead of print] 2019
3DHX37, GDTRS
Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.
Evilen da Silva T, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyanm H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AA, Elias F, Mitchell R, Frade Costa EM, Mendonca BB, Domenice S.
J Clin Endocrinol Metab Clin Endocrinol Metab. 2019 Jul 9. pii: jc.2019-00984. doi: 10.1210/jc.2019-00984. [Epub ahead of print] 2019
4DHX37
The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis.
Roychowdhury A, Joret C, Bourgeois G, Heurgué-Hamard V, Lafontaine DLJ, Graille M.
Nucleic Acids Res 47(14):7548-7563. doi: 10.1093/nar/gkz529. 2019
5DHX37, UTP14A
Molecular mechanism of the RNA helicase DHX37 and its activation by UTP14A in ribosome biogenesis.
Boneberg FM, Brandmann T, Kobel L, van den Heuvel J, Bargsten K, Bammert L, Kutay U, Jinek M.
RNA 25(6):685-701. doi: 10.1261/rna.069609.118. Epub 2019 Mar 25. 2019
6DHX37, UTP14A
The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles.
Choudhury P, Hackert P, Memet I, Sloan KE, Bohnsack MT.
RNA Biol 16(1):54-68. doi: 10.1080/15476286.2018.1556149. Epub 2018 Dec 27. 2019
7AK8, DDX23, DDX27, DDX41, DDX42, DDX43, DDX46, DDX47, DDX49, DDX50, DDX51, DDX52, DDX53, DDX54, DDX55, DDX56, DHX15, DHX29, DHX30, DHX32, DHX33, DHX34, DHX35, DHX36, DHX37, DHX38, DHX40, DHX57, DHX8, DHX9, EIF4A2, EIF4A3
The human DDX and DHX gene families of putative RNA helicases.
Abdelhaleem M, Maltais L, Wain H.
Genomics 81(6):618-22. 2003
8ATP10D, BEGAIN, CALCOCO1, CDK5RAP2, CERCAM, CIP2A, DHX36, DHX37, DPP10, DTX2, GPR124, GRAMD1A, HCN3, ISLR2, KANK2, KBTBD2, KBTBD2, KIAA1468, KIAA1522, KLHL1, KMT2C, LRCH2, MARK1, MBD5, MYH7B, NUSAP1, PDZD4, PITPNM2, PLCE1, POGK, POLR3E, PPP2R2D, RACGAP1, RCC2, SCAPER, SDK2, SEMA6D, SH3RF1, SPPL2B, STIM2, TSHZ3, UBAP2, URG4, USP28, VPS18, WDR48, WHRN, ZBTB2, ZNF530
Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O.
DNA Res 7(2):143-50. 2000