Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

PLoS Genetics

Volumn 6, Issue 2, 2010, Pages

  Morgan, Neil V ^a   Morris, Mark R ^a   Cangul, Hakan ^a,b   Gleeson, Diane ^c   Straatman Iwanowska, Anna ^a   Davies, Nicholas ^d   Keenan, Stephen ^c,e   Pasha, Shanaz ^a   Rahman, Fatimah ^a   Gentle, Dean ^a   Vreeswijk, Maaike P G ^f   Devilee, Peter ^f   Knowles, Margaret A ^g   Ceylaner, Serdar ^h   Trembath, Richard C ⁱ   Dalence, Carlos ^j   Kismet, Erol ^k   Lu, Vedat Köseoǧ ^k   Rossbach, Hans Christoph ^j   Gissen, Paul ^a   Tannahill, David ^c,l   Maher, Eamonn R ^a,m   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b ULUDAG UNIVERSITY   (Turkey)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^e EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h Intergen Genetics Center   (Turkey)

ⁱ GUY S HOSPITAL   (United Kingdom)

^j St Joseph's Children's Hospital of Tampa   (United States)

^k GULHANE SCHOOL OF MEDICINE   (Turkey)

^l CRANFIELD UNIVERSITY   (United Kingdom)

^m BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; CARRIER PROTEINS AND BINDING PROTEINS; EQUILIBRATIVE NUCLEOSIDE TRANSPORTER; EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 3; PROTEIN SLC29A3; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; ENT3 PROTEIN, MOUSE; NUCLEOSIDE TRANSPORTER; SLC29A3 PROTEIN, HUMAN;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLADDER CANCER; BREAST CANCER; CANCER CELL CULTURE; CELL PROLIFERATION; CELL STRAIN HEK293; CHROMOSOME 10Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; EMBRYO; EMBRYO DEVELOPMENT; FAISALABAD HISTIOCYTOSIS; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HELA CELL; HISTIOCYTOSIS; HUMAN; HUMAN CELL; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PROTEIN PROTEIN INTERACTION; ROSAI DORFMAN DISEASE; ALLELE; ANIMAL; ANIMAL EMBRYO; BLADDER TUMOR; BREAST TUMOR; CHROMOSOME 10; CHROMOSOME MAP; CLONOGENIC ASSAY; FAMILY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; SINUS HISTIOCYTOSIS; SYNDROME; TUMOR CELL LINE;

ALLELES; ANIMALS; BASE SEQUENCE; BREAST NEOPLASMS; CELL LINE, TUMOR; CELL PROLIFERATION; CHROMOSOMES, HUMAN, PAIR 10; COLONY-FORMING UNITS ASSAY; DNA MUTATIONAL ANALYSIS; EMBRYO, MAMMALIAN; FAMILY; FEMALE; GENE EXPRESSION REGULATION; GENETIC LOCI; HISTIOCYTOSIS, SINUS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; PHYSICAL CHROMOSOME MAPPING; RNA, SMALL INTERFERING; SYNDROME; URINARY BLADDER NEOPLASMS;

EID: 77649196563     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000833     Document Type: Article

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