[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Substantia nigra;
PubMed=7644468 [NCBI, ExPASy, EBI, Israel, Japan]
Rosenzweig B.L.,
Imamura T.,
Okadome T.,
Cox G.N.,
Yamashita H.,
ten Dijke P.,
Heldin C.,
Miyazono K.;
"Cloning and characterization of a human type II receptor for bone morphogenetic proteins.";
Proc. Natl. Acad. Sci. U.S.A. 92:7632-7636(1995).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Skin fibroblast;
DOI=10.1074/jbc.270.38.22522; PubMed=7673243 [NCBI, ExPASy, EBI, Israel, Japan]
Nohno T.,
Ishikawa T.,
Saito T.,
Hosokawa K.,
Noji S.,
Wosing D.H.,
Rosenbaum J.S.;
"Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors.";
J. Biol. Chem. 270:22522-22526(1995).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1074/jbc.270.10.5625; PubMed=7890683 [NCBI, ExPASy, EBI, Israel, Japan]
Kawabata M.,
Chytil A.,
Moses H.L.;
"Cloning of a novel type II serine/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor.";
J. Biol. Chem. 270:5625-5630(1995).
|
[4]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[5]
|
VARIANTS PPH1 GLN-491 AND TRP-491.
DOI=10.1086/303059; PubMed=10903931 [NCBI, ExPASy, EBI, Israel, Japan]
Deng Z.,
Morse J.H.,
Slager S.L.,
Cuervo N.,
Moore K.J.,
Venetos G.,
Kalachikov S.,
Cayanis E.,
Fischer S.G.,
Barst R.J.,
Hodge S.E.,
Knowles J.A.;
"Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.";
Am. J. Hum. Genet. 67:737-744(2000).
|
[6]
|
VARIANTS PPH1 TYR-60; TYR-117 AND ARG-483.
DOI=10.1136/jmg.37.10.741; PubMed=11015450 [NCBI, ExPASy, EBI, Israel, Japan]
Thomson J.R.,
Machado R.D.,
Pauciulo M.W.,
Morgan N.V.,
Humbert M.,
Elliott G.C.,
Ward K.,
Yacoub M.,
Mikhail G.,
Rogers P.,
Newman J.H.,
Wheeler L.,
Higenbottam T.,
Gibbs J.S.R.,
Egan J.,
Crozier A.,
Peacock A.,
Allcock R.,
Corris P., ![]()
Loyd J.E.,
Trembath R.C.,
Nichols W.C.;
"Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.";
J. Med. Genet. 37:741-745(2000).
|
[7]
|
VARIANTS PPH1 TRP-118; TYR-347 AND GLY-485.
DOI=10.1038/79226; PubMed=10973254 [NCBI, ExPASy, EBI, Israel, Japan]
Lane K.B.,
Machado R.D.,
Pauciulo M.W.,
Thomson J.R.,
Phillips J.A. III,
Loyd J.E.,
Nichols W.C.,
Trembath R.C.,
Aldred M.,
Brannon C.A.,
Conneally P.M.,
Foroud T.,
Fretwell N.,
Gaddipati R.,
Koller D.,
Loyd E.J.,
Morgan N.V.,
Newman J.H.,
Prince M.A., ![]()
Vilarino Gueell C.,
Wheeler L.;
"Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.";
Nat. Genet. 26:81-84(2000).
|
[8]
|
VARIANTS PPH1 ARG-123; SER-123; ARG-420 AND THR-512, VARIANT ASP-224, AND CHARACTERIZATION OF VARIANT PPH1 GLY-485.
DOI=10.1086/316947; PubMed=11115378 [NCBI, ExPASy, EBI, Israel, Japan]
Machado R.D.,
Pauciulo M.W.,
Thomson J.R.,
Lane K.B.,
Morgan N.V.,
Wheeler L.,
Phillips J.A. III,
Newman J.H.,
Williams D.,
Galie N.,
Manes A.,
McNeil K.,
Yacoub M.,
Mikhail G.,
Rogers P.,
Corris P.,
Humbert M.,
Donnai D.,
Martensson G., ![]()
Tranebjaerg L.,
Loyd J.E.,
Trembath R.C.,
Nichols W.C.;
"BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.";
Am. J. Hum. Genet. 68:92-102(2001).
|
[9]
|
VARIANTS PPH1 HIS-82; ASP-182 AND ARG-483.
DOI=10.1183/09031936.02.01762002; PubMed=12358323 [NCBI, ExPASy, EBI, Israel, Japan]
Humbert M.,
Deng Z.,
Simonneau G.,
Barst R.J.,
Sitbon O.,
Wolf M.,
Cuervo N.,
Moore K.J.,
Hodge S.E.,
Knowles J.A.,
Morse J.H.;
"BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.";
Eur. Respir. J. 20:518-523(2002).
|
[10]
|
INVOLVEMENT IN PVOD.
PubMed=12446270 [NCBI, ExPASy, EBI, Israel, Japan]
Runo J.R.,
Vnencak-Jones C.L.,
Prince M.,
Loyd J.E.,
Wheeler L.,
Robbins I.M.,
Lane K.B.,
Newman J.H.,
Johnson J.,
Nichols W.C.,
Phillips J.A. III;
"Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.";
Am. J. Respir. Crit. Care Med. 167:889-894(2003).
|
[11]
|
VARIANT PPH1 PRO-899, AND CHARACTERIZATION OF VARIANT PPH1 PRO-899.
DOI=10.1002/humu.20200; PubMed=15965979 [NCBI, ExPASy, EBI, Israel, Japan]
Sankelo M.,
Flanagan J.A.,
Machado R.,
Harrison R.,
Rudarakanchana N.,
Morrell N.,
Dixon M.,
Halme M.,
Puolijoki H.,
Kere J.,
Elomaa O.,
Kupari M.,
Raeisaenen-Sokolowski A.,
Trembath R.C.,
Laitinen T.;
"BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.";
Hum. Mutat. 26:119-124(2005).
|
[12]
|
INVOLVEMENT IN PVOD.
DOI=10.1002/humu.20285; PubMed=16429395 [NCBI, ExPASy, EBI, Israel, Japan]
Machado R.D.,
Aldred M.A.,
James V.,
Harrison R.E.,
Patel B.,
Schwalbe E.C.,
Gruenig E.,
Janssen B.,
Koehler R.,
Seeger W.,
Eickelberg O.,
Olschewski H.,
Elliott C.G.,
Glissmeyer E.,
Carlquist J.,
Kim M.,
Torbicki A.,
Fijalkowska A.,
Szewczyk G., ![]()
Parma J.,
Abramowicz M.J.,
Galie N.,
Morisaki H.,
Kyotani S.,
Nakanishi N.,
Morisaki T.,
Humbert M.,
Simonneau G.,
Sitbon O.,
Soubrier F.,
Coulet F.,
Morrell N.W.,
Trembath R.C.;
"Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.";
Hum. Mutat. 27:121-132(2006).
|
[13]
|
VARIANT [LARGE SCALE ANALYSIS] ASN-775.
DOI=10.1038/nature05610; PubMed=17344846 [NCBI, ExPASy, EBI, Israel, Japan]
Greenman C.,
Stephens P.,
Smith R.,
Dalgliesh G.L.,
Hunter C.,
Bignell G.,
Davies H.,
Teague J.,
Butler A.,
Stevens C.,
Edkins S.,
O'Meara S.,
Vastrik I.,
Schmidt E.E.,
Avis T.,
Barthorpe S.,
Bhamra G.,
Buck G.,
Choudhury B., ![]()
Clements J.,
Cole J.,
Dicks E.,
Forbes S.,
Gray K.,
Halliday K.,
Harrison R.,
Hills K.,
Hinton J.,
Jenkinson A.,
Jones D.,
Menzies A.,
Mironenko T.,
Perry J.,
Raine K.,
Richardson D.,
Shepherd R.,
Small A.,
Tofts C.,
Varian J.,
Webb T.,
West S.,
Widaa S.,
Yates A.,
Cahill D.P.,
Louis D.N.,
Goldstraw P.,
Nicholson A.G.,
Brasseur F.,
Looijenga L.,
Weber B.L.,
Chiew Y.-E.,
DeFazio A.,
Greaves M.F.,
Green A.R.,
Campbell P.,
Birney E.,
Easton D.F.,
Chenevix-Trench G.,
Tan M.-H.,
Khoo S.K.,
Teh B.T.,
Yuen S.T.,
Leung S.Y.,
Wooster R.,
Futreal P.A.,
Stratton M.R.;
"Patterns of somatic mutation in human cancer genomes.";
Nature 446:153-158(2007).
|
|
ExPASy Home page
SIB Switzerland
