Pigmentary hypertrichosis and insulin dependent diabetes mellitus (PHID) is caused by mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3)

被引：0

作者：

Padidela, Raja ^{[1
,2
]}

James, Chela ^{[1
,2
]}

Cliffe, Simon T. ^{[3
]}

Kramer, Jamie M. ^{[4
]}

Robben, Joris H. ^{[5
]}

de Jong, Eiko K. ^{[4
]}

de Brouwer, Arjan P. ^{[4
]}

Nibbeling, Esther ^{[4
]}

Kamsteeg, Erik-Jan ^{[4
]}

Wong, Melanie ^{[6
]}

Prendiville, Julie ^{[7
]}

Becknell, Charlie ^{[8
]}

van Bokhoven, Hans ^{[4
]}

Deen, Peter M. T. ^{[5
]}

Hennekam, Raoul C. M. ^{[2
,9
]}

Lindeman, Robert ^{[3
]}

Schenck, Annette ^{[4
]}

Roscioli, Tony ^{[3
]}

Buckley, Michael F. ^{[3
]}

Hussain, Khalid ^{[1
,2
]}

机构：

[1] Inst Child Hlth, Dev Endocrinol Res Grp, London, England

[2] Great Ormond St Hosp Sick Children, London, England

[3] Univ New S Wales, S Eastern Area, Lab Serv, Dept Haematol & Genet, Sydney, NSW, Australia

[4] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Dept Physiol, NL-6525 ED Nijmegen, Netherlands

[6] Childrens Hosp, Div Immunol & Allergy, Westmead, NSW, Australia

[7] British Columbia Childrens Hosp, Div Pediat Dermatol, Vancouver, BC, Canada

[8] Dermatol Associates Kentucky, Dermatol Clin, Lexington, KY USA

[9] Inst Child Hlth, Clin & Mol Genet Unit, London, England

来源：

HORMONE RESEARCH | 2009年 / 72卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：39 / 39

页数：1

共 7 条

[1] Identification of Two Novel Mutations in SLC29A3 Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies of SLC29A3 (hENT3) in Human Skin
Farooq, Muhammad
Moustafa, Rasha Mohammad
Fujimoto, Atsushi
Fujikawa, Hiroki
Abbas, Ossama
Kibbi, Abdul Ghani
Kurban, Mazen
Shimomura, Yutaka
DERMATOLOGY, 2012, 224 (03) : 277 - 284
[2] Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability
Kang, Nayoung
Jun, Ah Hyun
Bhutia, Yangzom Doma
Kannan, Natarajan
Unadkat, Jashvant D.
Govindarajan, Rajgopal
JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (36) : 28343 - 28352
[3] A novel 3′ untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome
Riachi, Melissa
Bas, Firdevs
Darendeliler, Feyza
Hussain, Khalid
PEDIATRIC DIABETES, 2019, 20 (04) : 474 - 481
[4] SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
Cliffe, Simon T.
Kramer, Jamie M.
Hussain, Khalid
Robben, Joris H.
de Jong, Eiko K.
de Brouwer, Arjan P.
Nibbeling, Esther
Kamsteeg, Erik-Jan
Wong, Melanie
Prendiville, Julie
James, Chela
Padidela, Raja
Becknell, Charlie
van Bokhoven, Hans
Deen, Peter M. T.
Hennekam, Raoul C. M.
Lindeman, Robert
Schenck, Annette
Roscioli, Tony
Buckley, Michael F.
HUMAN MOLECULAR GENETICS, 2009, 18 (12) : 2257 - 2265
[5] Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease
Morgan, Neil V.
Morris, Mark R.
Cangul, Hakan
Gleeson, Diane
Straatman-Iwanowska, Anna
Davies, Nicholas
Keenan, Stephen
Pasha, Shanaz
Rahman, Fatimah
Gentle, Dean
Vreeswijk, Maaike P. G.
Devilee, Peter
Knowles, Margaret A.
Ceylaner, Serdar
Trembath, Richard C.
Dalence, Carlos
Kismet, Erol
Koseoglu, Vedat
Rossbach, Hans-Christoph
Gissen, Paul
Tannahill, David
Maher, Eamonn R.
PLOS GENETICS, 2010, 6 (02):
[6] Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
Campeau, Philippe M.
Lu, James T.
Sule, Gautam
Jiang, Ming-Ming
Bae, Yangjin
Madan, Simran
Hoegler, Wolfgang
Shaw, Nicholas J.
Mumm, Steven
Gibbs, Richard A.
Whyte, Michael P.
Lee, Brendan H.
HUMAN MOLECULAR GENETICS, 2012, 21 (22) : 4904 - 4909
[7] A splice variant of the SLC28A3 gene encodes a novel human concentrative nucleoside transporter-3 (hCNT3) protein localized in the endoplasmic reticulum
Errasti-Murugarren, Ekaitz
Molina-Arcas, Miriam
Casado, Fco Javier
Pastor-Anglada, Marcal
FASEB JOURNAL, 2009, 23 (01): : 172 - 182

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