Activin receptor-like kinases
a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.ten Dijke P., Ichijo H., Franzen P., Schulz P., Saras J., Toyoshima H., Heldin C.-H., Miyazono K.Oncogene 8:2879-2887(1993)
Complete sequencing and characterization of 21,243 full-length human cDNAs.Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.Nat. Genet. 36:40-45(2004)
Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP)
binding properties.Mahlawat P., Ilangovan U., Biswas T., Sun L.Z., Hinck A.P.Biochemistry 51:6328-6341(2012)
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.Degenkolbe E., Konig J., Zimmer J., Walther M., Reissner C., Nickel J., Ploger F., Raspopovic J., Sharpe J., Dathe K., Hecht J.T., Mundlos S., Doelken S.C., Seemann P.PLoS Genet. 9:E1003846-E1003846(2013)
Crystal structure of the BMP-2-BRIA ectodomain complex.Kirsch T., Sebald W., Dreyer M.K.Nat. Struct. Biol. 7:492-496(2000)
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.Howe J.R., Bair J.L., Sayed M.G., Anderson M.E., Mitros F.A., Petersen G.M., Velculescu V.E., Traverso G., Vogelstein B.Nat. Genet. 28:184-187(2001)
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.Zhou X.-P., Woodford-Richens K., Lehtonen R., Kurose K., Aldred M., Hampel H., Launonen V., Virta S., Pilarski R., Salovaara R., Bodmer W.F., Conrad B.A., Dunlop M., Hodgson S.V., Iwama T., Jaervinen H., Kellokumpu I., Kim J.C., Leggett B., Markie D., Mecklin J.-P., Neale K., Phillips R., Piris J., Rozen P., Houlston R.S., Aaltonen L.A., Tomlinson I.P.M., Eng C.Am. J. Hum. Genet. 69:704-711(2001)
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.Sayed M.G., Ahmed A.F., Ringold J.R., Anderson M.E., Bair J.L., Mitros F.A., Lynch H.T., Tinley S.T., Petersen G.M., Giardiello F.M., Vogelstein B., Howe J.R.Ann. Surg. Oncol. 9:901-906(2002)
Juvenile polyposis
massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.Friedl W., Uhlhaas S., Schulmann K., Stolte M., Loff S., Back W., Mangold E., Stern M., Knaebel H.P., Sutter C., Weber R.G., Pistorius S., Burger B., Propping P.Hum. Genet. 111:108-111(2002)
Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.Kim I.J., Park J.H., Kang H.C., Kim K.H., Kim J.H., Ku J.L., Kang S.B., Park S.Y., Lee J.S., Park J.G.Clin. Genet. 63:126-130(2003)
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.Delnatte C., Sanlaville D., Mougenot J.-F., Vermeesch J.-R., Houdayer C., Blois M.-C., Genevieve D., Goulet O., Fryns J.-P., Jaubert F., Vekemans M., Lyonnet S., Romana S., Eng C., Stoppa-Lyonnet D.Am. J. Hum. Genet. 78:1066-1074(2006)
Mapping of hereditary mixed polyposis syndrome (HMPS)
to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP)
scan and identification of BMPR1A loss of function.Cao X., Eu K.W., Kumarasinghe M.P., Li H.H., Loi C., Cheah P.Y.J. Med. Genet. 43:E13-E13(2006)
Patterns of somatic mutation in human cancer genomes.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.Nature 446:153-158(2007)