[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Placenta;
PubMed=8397373 [NCBI, ExPASy, EBI, Israel, Japan]
ten Dijke P.,
Ichijo H.,
Franzen P.,
Schulz P.,
Saras J.,
Toyoshima H.,
Heldin C.-H.,
Miyazono K.;
"Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.";
Oncogene 8:2879-2887(1993).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0092-8674(93)90488-C; PubMed=8242742 [NCBI, ExPASy, EBI, Israel, Japan]
Attisano L.,
Carcamo J.,
Ventura F.,
Weis F.M.,
Massague J.,
Wrana J.L.;
"Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.";
Cell 75:671-680(1993).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS HHT2 CYS-50; GLN-67; ILE-333; TRP-374 AND THR-424.
PubMed=9245985 [NCBI, ExPASy, EBI, Israel, Japan]
Berg J.N.,
Gallione C.J.,
Stenzel T.T.,
Johnson D.W.,
Allen W.P.,
Schwartz C.E.,
Jackson C.E.,
Porteous M.E.M.,
Marchuk D.A.;
"The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.";
Am. J. Hum. Genet. 61:60-67(1997).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04569; PubMed=16541075 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.E.,
Muzny D.M.,
Buhay C.J.,
Chen R.,
Cree A.,
Ding Y.,
Dugan-Rocha S.,
Gill R.,
Gunaratne P.,
Harris R.A.,
Hawes A.C.,
Hernandez J.,
Hodgson A.V.,
Hume J.,
Jackson A.,
Khan Z.M.,
Kovar-Smith C.,
Lewis L.R.,
Lozado R.J., ![]()
Metzker M.L.,
Milosavljevic A.,
Miner G.R.,
Montgomery K.T.,
Morgan M.B.,
Nazareth L.V.,
Scott G.,
Sodergren E.,
Song X.-Z.,
Steffen D.,
Lovering R.C.,
Wheeler D.A.,
Worley K.C.,
Yuan Y.,
Zhang Z.,
Adams C.Q.,
Ansari-Lari M.A.,
Ayele M.,
Brown M.J.,
Chen G.,
Chen Z.,
Clerc-Blankenburg K.P.,
Davis C.,
Delgado O.,
Dinh H.H.,
Draper H.,
Gonzalez-Garay M.L.,
Havlak P.,
Jackson L.R.,
Jacob L.S.,
Kelly S.H.,
Li L.,
Li Z.,
Liu J.,
Liu W.,
Lu J.,
Maheshwari M.,
Nguyen B.-V.,
Okwuonu G.O.,
Pasternak S.,
Perez L.M.,
Plopper F.J.H.,
Santibanez J.,
Shen H.,
Tabor P.E.,
Verduzco D.,
Waldron L.,
Wang Q.,
Williams G.A.,
Zhang J.,
Zhou J.,
Allen C.C.,
Amin A.G.,
Anyalebechi V.,
Bailey M.,
Barbaria J.A.,
Bimage K.E.,
Bryant N.P.,
Burch P.E.,
Burkett C.E.,
Burrell K.L.,
Calderon E.,
Cardenas V.,
Carter K.,
Casias K.,
Cavazos I.,
Cavazos S.R.,
Ceasar H.,
Chacko J.,
Chan S.N.,
Chavez D.,
Christopoulos C.,
Chu J.,
Cockrell R.,
Cox C.D.,
Dang M.,
Dathorne S.R.,
David R.,
Davis C.M.,
Davy-Carroll L.,
Deshazo D.R.,
Donlin J.E.,
D'Souza L.,
Eaves K.A.,
Egan A.,
Emery-Cohen A.J.,
Escotto M.,
Flagg N.,
Forbes L.D.,
Gabisi A.M.,
Garza M.,
Hamilton C.,
Henderson N.,
Hernandez O.,
Hines S.,
Hogues M.E.,
Huang M.,
Idlebird D.G.,
Johnson R.,
Jolivet A.,
Jones S.,
Kagan R.,
King L.M.,
Leal B.,
Lebow H.,
Lee S.,
LeVan J.M.,
Lewis L.C.,
London P.,
Lorensuhewa L.M.,
Loulseged H.,
Lovett D.A.,
Lucier A.,
Lucier R.L.,
Ma J.,
Madu R.C.,
Mapua P.,
Martindale A.D.,
Martinez E.,
Massey E.,
Mawhiney S.,
Meador M.G.,
Mendez S.,
Mercado C.,
Mercado I.C.,
Merritt C.E.,
Miner Z.L.,
Minja E.,
Mitchell T.,
Mohabbat F.,
Mohabbat K.,
Montgomery B.,
Moore N.,
Morris S.,
Munidasa M.,
Ngo R.N.,
Nguyen N.B.,
Nickerson E.,
Nwaokelemeh O.O.,
Nwokenkwo S.,
Obregon M.,
Oguh M.,
Oragunye N.,
Oviedo R.J.,
Parish B.J.,
Parker D.N.,
Parrish J.,
Parks K.L.,
Paul H.A.,
Payton B.A.,
Perez A.,
Perrin W.,
Pickens A.,
Primus E.L.,
Pu L.-L.,
Puazo M.,
Quiles M.M.,
Quiroz J.B.,
Rabata D.,
Reeves K.,
Ruiz S.J.,
Shao H.,
Sisson I.,
Sonaike T.,
Sorelle R.P.,
Sutton A.E.,
Svatek A.F.,
Svetz L.A.,
Tamerisa K.S.,
Taylor T.R.,
Teague B.,
Thomas N.,
Thorn R.D.,
Trejos Z.Y.,
Trevino B.K.,
Ukegbu O.N.,
Urban J.B.,
Vasquez L.I.,
Vera V.A.,
Villasana D.M.,
Wang L.,
Ward-Moore S.,
Warren J.T.,
Wei X.,
White F.,
Williamson A.L.,
Wleczyk R.,
Wooden H.S.,
Wooden S.H.,
Yen J.,
Yoon L.,
Yoon V.,
Zorrilla S.E.,
Nelson D.,
Kucherlapati R.,
Weinstock G.,
Gibbs R.A.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
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).
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[7]
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VARIANTS HHT2 SER-232 DEL; ARG-376 AND GLN-411.
DOI=10.1038/ng0696-189; PubMed=8640225 [NCBI, ExPASy, EBI, Israel, Japan]
Johnson D.W.,
Berg J.N.,
Baldwin M.A.,
Gallione C.J.,
Marondel I.,
Yoon S.-J.,
Stenzel T.T.,
Speer M.,
Pericak-Vance M.A.,
Diamond A.,
Guttmacher A.E.,
Jackson C.E.,
Attisano L.,
Kucherlapati R.,
Porteous M.E.M.,
Marchuk D.A.;
"Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.";
Nat. Genet. 13:189-194(1996).
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[8]
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VARIANTS HHT2 TYR-51; TRP-77 AND ASP-96.
DOI=10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU15>3.3.CO;2-D; PubMed=10694922 [NCBI, ExPASy, EBI, Israel, Japan]
Klaus D.J.,
Gallione C.J.,
Anthony K.,
Yeh E.Y.,
Yu J.,
Lux A.,
Johnson D.W.,
Marchuk D.A.;
"Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia.";
Hum. Mutat. 12:137-137(1998).
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[9]
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VARIANTS HHT2 GLY-48-49-ALA DELINS EP; CYS-50; SER-232 DEL; ILE-333; TYR-344 AND ASP-407.
DOI=10.1093/hmg/9.8.1227; PubMed=10767348 [NCBI, ExPASy, EBI, Israel, Japan]
Abdalla S.A.,
Pece-Barbara N.,
Vera S.,
Tapia E.,
Paez E.,
Bernabeu C.,
Letarte M.;
"Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.";
Hum. Mol. Genet. 9:1227-1237(2000).
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[10]
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VARIANTS HHT2 TRP-374 AND ASN-398.
DOI=10.1002/1096-8628(20010201)98:4<298::AID-AJMG1093>3.0.CO;2-K; PubMed=11170071 [NCBI, ExPASy, EBI, Israel, Japan]
Kjeldsen A.D.,
Brusgaard K.,
Poulsen L.,
Kruse T.,
Rasmussen K.,
Green A.,
Vase P.;
"Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.";
Am. J. Med. Genet. 98:298-302(2001).
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[11]
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VARIANTS HHT2 ASP-254 DEL; TRP-411 AND TRP-484.
DOI=10.1056/NEJM200108023450503; PubMed=11484689 [NCBI, ExPASy, EBI, Israel, Japan]
Trembath R.C.,
Thomson J.R.,
Machado R.D.,
Morgan N.V.,
Atkinson C.,
Winship I.,
Simonneau G.,
Galie N.,
Loyd J.E.,
Humbert M.,
Nichols W.C.,
Berg J.,
Manes A.,
McGaughran J.,
Pauciulo M.,
Wheeler L.,
Morrell N.W.;
"Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.";
N. Engl. J. Med. 345:325-334(2001).
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[12]
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VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487, AND CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487.
DOI=10.1136/jmg.40.12.865; PubMed=14684682 [NCBI, ExPASy, EBI, Israel, Japan]
Harrison R.E.,
Flanagan J.A.,
Sankelo M.,
Abdalla S.A.,
Rowell J.,
Machado R.D.,
Elliott C.G.,
Robbins I.M.,
Olschewski H.,
McLaughlin V.,
Gruenig E.,
Kermeen F.,
Halme M.,
Raeisaenen-Sokolowski A.,
Laitinen T.,
Morrell N.W.,
Trembath R.C.;
"Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.";
J. Med. Genet. 40:865-871(2003).
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[13]
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ERRATUM.
Harrison R.E.,
Flanagan J.A.,
Sankelo M.,
Abdalla S.A.,
Rowell J.,
Machado R.D.,
Elliott C.G.,
Robbins I.M.,
Olschewski H.,
McLaughlin V.,
Gruenig E.,
Kermeen F.,
Halme M.,
Raeisaenen-Sokolowski A.,
Laitinen T.,
Morrell N.W.,
Trembath R.C.;
J. Med. Genet. 41:576-576(2004).
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[14]
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VARIANTS HHT2 ARG-48; LYS-215; ARG-223; ARG-229; SER-233 DEL; PHE-285; PRO-306; TYR-314; PRO-337; PRO-347; GLN-374; VAL-376; LYS-379; GLY-397; TRP-411; PRO-411; GLN-411; LEU-425; LEU-479; VAL-482 AND TRP-484.
DOI=10.1002/humu.20017; PubMed=15024723 [NCBI, ExPASy, EBI, Israel, Japan]
French Rendu-Osler network;
Lesca G.,
Plauchu H.,
Coulet F.,
Lefebvre S.,
Plessis G.,
Odent S.,
Riviere S.,
Leheup B.,
Goizet C.,
Carette M.-F.,
Cordier J.-F.,
Pinson S.,
Soubrier F.,
Calender A.,
Giraud S.;
"Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.";
Hum. Mutat. 23:289-299(2004).
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[15]
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VARIANTS HHT2 TRP-67; TRP-374; LYS-379; ASP-407; TRP-411; VAL-425 AND PHE-425 DEL.
DOI=10.1002/humu.9311; PubMed=15712270 [NCBI, ExPASy, EBI, Israel, Japan]
Kuehl H.K.A.,
Caselitz M.,
Hasenkamp S.,
Wagner S.,
El-Harith E.-H.A.,
Manns M.P.,
Stuhrmann M.;
"Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.";
Hum. Mutat. 25:320-320(2005).
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