Sequence of S5A2_HUMAN

3-oxo-5alpha-steroid 4-dehydrogenase (NADP+)

P31213

254

28393

96693

Andersson S.,Berman D.M.,Jenkins E.P.,Russell D.W.

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.

Nature

354

159-161

1991

96694

Labrie F.,Sugimoto Y.,Luu-The V.,Simard J.,Lachance Y.,Bachvarov D.,Leblanc G.,Durocher F.,Paquet N.

Structure of human type II 5 alpha-reductase gene.

Endocrinology

131

1571-1573

1992

96697

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

96699

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

96701

Thigpen A.E.,Davis D.L.,Milatovich A.,Mendonca B.B.,Imperato-Mcginley J.,Griffin J.E.,Francke U.,Wilson J.D.,Russell D.W.

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

J. Clin. Invest.

90

799-809

1992

96702

Boudon C.,Lobaccaro J.-M.,Lumbroso S.,Ogur G.,Ocal G.,Belon C.,Sultan C.

A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency.

Clin. Endocrinol. (Oxf.)

43

183-188

1995

96703

Cai L.-Q.,Zhu Y.-S.,Katz M.D.,Herrera C.,Baez J.,DeFillo-Ricart M.,Shackleton C.H.L.,Imperato-McGinley J.

5-alpha-reductase-2 gene mutations in the Dominican Republic.

J. Clin. Endocrinol. Metab.

81

1730-1735

1996

96704

Hochberg Z.,Chayen R.,Reiss N.,Falik Z.,Makler A.,Munichor M.,Farkas A.,Goldfarb H.,Ohana N.,Hiort O.

Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5-alpha-reductase 2 deficiency.

J. Clin. Endocrinol. Metab.

81

2821-2827

1996

96705

Anwar R.,Gilbey S.G.,New J.P.,Markham A.F.

Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).

Mol. Pathol.

50

51-52

1997

96706

Nordenskjold A.,Magnus O.,Aagenaes O.,Knudtzon J.

Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations.

Am. J. Med. Genet.

80

269-272

1998

96707

Nordenskjold A.,Ivarsson S.-A.

Molecular characterization of 5-alpha-reductase type 2 deficiency and fertility in a Swedish family.

J. Clin. Endocrinol. Metab.

83

3236-3238

1998

96708

Makridakis N.M.,Ross R.K.,Pike M.C.,Crocitto L.E.,Kolonel L.N.,Pearce C.L.,Henderson B.E.,Reichardt J.K.V.

Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA.

Lancet

354

975-978

1999

96709

Vilchis F.,Mendez J.P.,Canto P.,Lieberman E.,Chavez B.

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.

Clin. Endocrinol. (Oxf.)

52

383-387

2000

96710

Chavez B.,Valdez E.,Vilchis F.

Uniparental disomy in steroid 5-alpha-reductase 2 deficiency.

J. Clin. Endocrinol. Metab.

85

3147-3150

2000

96711

Makridakis N.M.,di Salle E.,Reichardt J.K.

Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.

Pharmacogenetics

10

407-413

2000

96712

Pearce C.L.,Makridakis N.M.,Ross R.K.,Pike M.C.,Kolonel L.N.,Henderson B.E.,Reichardt J.K.V.

Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study.

Cancer Epidemiol. Biomarkers Prev.

11

417-418

2002

96713

Sasaki G.,Ogata T.,Ishii T.,Kosaki K.,Sato S.,Homma K.,Takahashi T.,Hasegawa T.,Matsuo N.

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.

J. Clin. Endocrinol. Metab.

88

3431-3436

2003

96714

Loukola A.,Chadha M.,Penn S.G.,Rank D.,Conti D.V.,Thompson D.,Cicek M.,Love B.,Bivolarevic V.,Yang Q.,Jiang Y.,Hanzel D.K.,Dains K.,Paris P.L.,Casey G.,Witte J.S.

Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.

Eur. J. Hum. Genet.

12

321-332

2004

96715

Fernandez-Cancio M.,Rodo J.,Andaluz P.,Martinez de Osaba M.J.,Rodriguez-Hierro F.,Esteban C.,Carrascosa A.,Audi L.

Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.

Horm. Res.

62

259-264

2004

96716

Fernandez-Cancio M.,Nistal M.,Gracia R.,Molina M.A.,Tovar J.A.,Esteban C.,Carrascosa A.,Audi L.

Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

J. Androl.

25

412-416

2004

96717

Nicoletti A.,Baldazzi L.,Balsamo A.,Barp L.,Pirazzoli P.,Gennari M.,Radetti G.,Cacciari E.,Cicognani A.

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

Clin. Endocrinol. (Oxf.)

63

375-380

2005

96718

Hackel C.,Oliveira L.E.,Ferraz L.F.,Tonini M.M.,Silva D.N.,Toralles M.B.,Stuchi-Perez E.G.,Guerra-Junior G.

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

J. Mol. Med.

83

569-576

2005

96719

Bahceci M.,Ersay A.R.,Tuzcu A.,Hiort O.,Richter-Unruh A.,Gokalp D.

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

Urology

66

407-410

2005