Sequence of NSDHL_HUMAN

3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)

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Comparative genome sequence analysis of the Bpa/Str region in mouse and man.

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The DNA sequence and comparative analysis of human chromosome 10.

Nature

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Ross M.T.,Grafham D.V.,Coffey A.J.,Scherer S.,McLay K.,Muzny D.,Platzer M.,Howell G.R.,Burrows C.,Bird C.P.,Frankish A.,Lovell F.L.,Howe K.L.,Ashurst J.L.,Fulton R.S.,Sudbrak R.,Wen G.,Jones M.C.,Hurles M.E.,Andrews T.D.,Scott C.E.,Searle S.,Ramser J.,Whittaker A.,Deadman R.,Carter N.P.,Hunt S.E.,Chen R.,Cree A.,Gunaratne P.,Havlak P.,Hodgson A.,Metzker M.L.,Richards S.,Scott G.,Steffen D.,Sodergren E.,Wheeler D.A.,Worley K.C.,Ainscough R.,Ambrose K.D.,Ansari-Lari M.A.,Aradhya S.,Ashwell R.I.,Babbage A.K.,Bagguley C.L.,Ballabio A.,Banerjee R.,Barker G.E.,Barlow K.F.,Barrett I.P.,Bates K.N.,Beare D.M.,Beasley H.,Beasley O.,Beck A.,Bethel G.,Blechschmidt K.,Brady N.,Bray-Allen S.,Bridgeman A.M.,Brown A.J.,Brown M.J.,Bonnin D.,Bruford E.A.,Buhay C.,Burch P.,Burford D.,Burgess J.,Burrill W.,Burton J.,Bye J.M.,Carder C.,Carrel L.,Chako J.,Chapman J.C.,Chavez D.,Chen E.,Chen G.,Chen Y.,Chen Z.,Chinault C.,Ciccodicola A.,Clark S.Y.,Clarke G.,Clee C.M.,Clegg S.,Clerc-Blankenburg K.,Clifford K.,Cobley V.,Cole C.G.,Conquer J.S.,Corby N.,Connor R.E.,David R.,Davies J.,Davis C.,Davis J.,Delgado O.,Deshazo D.,Dhami P.,Ding Y.,Dinh H.,Dodsworth S.,Draper H.,Dugan-Rocha S.,Dunham A.,Dunn M.,Durbin K.J.,Dutta I.,Eades T.,Ellwood M.,Emery-Cohen A.,Errington H.,Evans K.L.,Faulkner L.,Francis F.,Frankland J.,Fraser A.E.,Galgoczy P.,Gilbert J.,Gill R.,Gloeckner G.,Gregory S.G.,Gribble S.,Griffiths C.,Grocock R.,Gu Y.,Gwilliam R.,Hamilton C.,Hart E.A.,Hawes A.,Heath P.D.,Heitmann K.,Hennig S.,Hernandez J.,Hinzmann B.,Ho S.,Hoffs M.,Howden P.J.,Huckle E.J.,Hume J.,Hunt P.J.,Hunt A.R.,Isherwood J.,Jacob L.,Johnson D.,Jones S.,de Jong P.J.,Joseph S.S.,Keenan S.,Kelly S.,Kershaw J.K.,Khan Z.,Kioschis P.,Klages S.,Knights A.J.,Kosiura A.,Kovar-Smith C.,Laird G.K.,Langford C.,Lawlor S.,Leversha M.,Lewis L.,Liu W.,Lloyd C.,Lloyd D.M.,Loulseged H.,Loveland J.E.,Lovell J.D.,Lozado R.,Lu J.,Lyne R.,Ma J.,Maheshwari M.,Matthews L.H.,McDowall J.,McLaren S.,McMurray A.,Meidl P.,Meitinger T.,Milne S.,Miner G.,Mistry S.L.,Morgan M.,Morris S.,Mueller I.,Mullikin J.C.,Nguyen N.,Nordsiek G.,Nyakatura G.,O'dell C.N.,Okwuonu G.,Palmer S.,Pandian R.,Parker D.,Parrish J.,Pasternak S.,Patel D.,Pearce A.V.,Pearson D.M.,Pelan S.E.,Perez L.,Porter K.M.,Ramsey Y.,Reichwald K.,Rhodes S.,Ridler K.A.,Schlessinger D.,Schueler M.G.,Sehra H.K.,Shaw-Smith C.,Shen H.,Sheridan E.M.,Shownkeen R.,Skuce C.D.,Smith M.L.,Sotheran E.C.,Steingruber H.E.,Steward C.A.,Storey R.,Swann R.M.,Swarbreck D.,Tabor P.E.,Taudien S.,Taylor T.,Teague B.,Thomas K.,Thorpe A.,Timms K.,Tracey A.,Trevanion S.,Tromans A.C.,d'Urso M.,Verduzco D.,Villasana D.,Waldron L.,Wall M.,Wang Q.,Warren J.,Warry G.L.,Wei X.,West A.,Whitehead S.L.,Whiteley M.N.,Wilkinson J.E.,Willey D.L.,Williams G.,Williams L.,Williamson A.,Williamson H.,Wilming L.,Woodmansey R.L.,Wray P.W.,Yen J.,Zhang J.,Zhou J.,Zoghbi H.,Zorilla S.,Buck D.,Reinhardt R.,Poustka A.,Rosenthal A.,Lehrach H.,Meindl A.,Minx P.J.,Hillier L.W.,Willard H.F.,Wilson R.K.,Waterston R.H.,Rice C.M.,Vaudin M.,Coulson A.,Nelson D.L.,Weinstock G.,Sulston J.E.,Durbin R.M.,Hubbard T.,Gibbs R.A.,Beck S.,Rogers J.,Bentley D.R.

The DNA sequence of the human X chromosome.

Nature

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

Genome Res.

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Levin M.L.,Chatterjee A.,Pragliola A.,Worley K.C.,Wehnert M.,Zhuchenko O.,Smith R.F.,Lee C.C.,Herman G.E.

A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.

Genome Res.

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833544

Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.

Initial characterization of the human central proteome.

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Bienvenut W.V.,Sumpton D.,Martinez A.,Lilla S.,Espagne C.,Meinnel T.,Giglione C.

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

Mol. Cell. Proteomics

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Van Damme P.,Lasa M.,Polevoda B.,Gazquez C.,Elosegui-Artola A.,Kim D.S.,De Juan-Pardo E.,Demeyer K.,Hole K.,Larrea E.,Timmerman E.,Prieto J.,Arnesen T.,Sherman F.,Gevaert K.,Aldabe R.

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

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Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.

Toward a comprehensive characterization of a human cancer cell phosphoproteome.

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Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

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Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.

N-terminome analysis of the human mitochondrial proteome.

Proteomics

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833550

Konig A.,Happle R.,Bornholdt D.,Engel H.,Grzeschik K.H.

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

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Konig A.,Happle R.,Fink-Puches R.,Soyer H.P.,Bornholdt D.,Engel H.,Grzeschik K.H.

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

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McLarren K.W.,Severson T.M.,du Souich C.,Stockton D.W.,Kratz L.E.,Cunningham D.,Hendson G.,Morin R.D.,Wu D.,Paul J.E.,An J.,Nelson T.N.,Chou A.,DeBarber A.E.,Merkens L.S.,Michaud J.L.,Waters P.J.,Yin J.,McGillivray B.,Demos M.,Rouleau G.A.,Grzeschik K.H.,Smith R.,Tarpey P.S.,Shears D.,Schwartz C.E.,Gecz J.,Stratton M.R.,Arbour L.,Hurlburt J.,Van Allen M.I.,Herman G.E.,Zhao Y.,Moore R.,Kelley R.I.,Jones S.J.,Steiner R.D.,Raymond F.L.,Marra M.A.,Boerkoel C.F.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Am. J. Hum. Genet.

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833553

Kim D.G.,Cho S.,Lee K.Y.,Cheon S.H.,Yoon H.J.,Lee J.Y.,Kim D.,Shin K.S.,Koh C.H.,Koo J.S.,Choi Y.,Lee H.H.,Oh Y.K.,Jeong Y.S.,Chung S.J.,Baek M.,Jung K.Y.,Lim H.J.,Kim H.S.,Park S.J.,Lee J.Y.,Lee S.J.,Lee B.J.

Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.

Cell. Mol. Life Sci.

78

207-225

2021