1 - 25 of 95 results for author:"Zabel B." in Literature citations
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| TRPV4-associated skeletal dysplasias. Nishimura G., Lausch E., Savarirayan R., Shiba M., Spranger J., Zabel B., Ikegawa S., Superti-Furga A., Unger S. Am J Med Genet C Semin Med Genet 160C:190-204(2012) · Mapped (1) |
| The chemoattractant chemerin suppresses melanoma by recruiting natural killer cell antitumor defenses. Pachynski R.K., Zabel B.A., Kohrt H.E., Tejeda N.M., Monnier J., Swanson C.D., Holzer A.K., Gentles A.J., Sperinde G.V., Edalati A. et al. J. Exp. Med. 209:1427-1435(2012) · Mapped (3) |
| Expression, regulation, and function of atypical chemerin receptor CCRL2 on endothelial cells. Monnier J., Lewen S., O'Hara E., Huang K., Tu H., Butcher E.C., Zabel B.A. J. Immunol. 189:956-967(2012) · Mapped (1) |
| Chemokine-like receptor 1 regulates skeletal muscle cell myogenesis. Issa M.E., Muruganandan S., Ernst M.C., Parlee S.D., Zabel B.A., Butcher E.C., Sinal C.J., Goralski K.B. Am. J. Physiol., Cell Physiol. 302:C1621-31(2012) · Mapped (3) |
| Disruption of the chemokine-like receptor-1 (CMKLR1) gene is associated with reduced adiposity and glucose intolerance. Ernst M.C., Haidl I.D., Zuniga L.A., Dranse H.J., Rourke J.L., Zabel B.A., Butcher E.C., Sinal C.J. Endocrinology 153:672-682(2012) · Mapped (4) |
| Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Unger S., Lausch E., Stanzial F., Gillessen-Kaesbach G., Stefanova I., Di Stefano C.M., Bertini E., Dionisi-Vici C., Nilius B., Zabel B. et al. Am. J. Med. Genet. A 155A:2860-2864(2011) · Mapped (1) |
| Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., Le Merrer M., Cormier-Daire V., Hall C.M., Offiah A. et al. |
| Regulation of chemerin chemoattractant and antibacterial activity by human cysteine cathepsins. Kulig P., Kantyka T., Zabel B.A., Banas M., Chyra A., Stefanska A., Tu H., Allen S.J., Handel T.M., Kozik A. et al. J. Immunol. 187:1403-1410(2011) · Mapped (16) |
| Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Le Goff C., Mahaut C., Wang L.W., Allali S., Abhyankar A., Jensen S., Zylberberg L., Collod-Beroud G., Bonnet D., Alanay Y. et al. Am. J. Hum. Genet. 89:7-14(2011) · UniProtKB (1) · Mapped (13) |
| Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Vissers L.E., Lausch E., Unger S., Campos-Xavier A.B., Gilissen C., Rossi A., Del Rosario M., Venselaar H., Knoll U., Nampoothiri S. et al. Am. J. Hum. Genet. 88:608-615(2011) · UniProtKB (1) · Mapped (1) |
| Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation. Woelfle J.V., Brenner R.E., Zabel B., Reichel H., Nelitz M. J Orthop Sci 16:245-249(2011) · Mapped (3) |
| Interaction of TGFbeta and BMP signaling pathways during chondrogenesis. Keller B., Yang T., Chen Y., Munivez E., Bertin T., Zabel B., Lee B. PLoS ONE 6:e16421-e16421(2011) · Mapped (10) |
| Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S., Sassi S., Ferrari A., Mari F., Zabel B., Lausch E. et al. Am. J. Med. Genet. A 155:332-336(2011) · UniProtKB (1) |
| Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Lausch E., Janecke A., Bros M., Trojandt S., Alanay Y., De Laet C., Hubner C.A., Meinecke P., Nishimura G., Matsuo M. et al. |
| Adding efficiency: the role of the CAN ion channels TRPM4 and TRPM5 in pancreatic islets. Enklaar T., Brixel L.R., Zabel B.U., Prawitt D. Islets 2:337-338(2010) · Mapped (3) |
| Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease. Mattijssen S., Hinson E.R., Onnekink C., Hermanns P., Zabel B., Cresswell P., Pruijn G.J. Cell. Mol. Life Sci. 68:2469-2480(2011) · Mapped (6) |
| Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Endele S., Rosenberger G., Geider K., Popp B., Tamer C., Stefanova I., Milh M., Kortum F., Fritsch A., Pientka F.K. et al. |
| CXCR7 protein is not expressed on human or mouse leukocytes. Berahovich R.D., Zabel B.A., Penfold M.E., Lewen S., Wang Y., Miao Z., Gan L., Pereda J., Dias J., Slukvin I.I. et al. J. Immunol. 185:5130-5139(2010) · Mapped (1) |
| Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Unger S., Lausch E., Rossi A., Megarbane A., Sillence D., Alcausin M., Aytes A., Mendoza-Londono R., Nampoothiri S., Afroze B. et al. Am. J. Med. Genet. A 152A:2543-2549(2010) · Mapped (1) |
| Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Johnston J.J., Sapp J.C., Turner J.T., Amor D., Aftimos S., Aleck K.A., Bocian M., Bodurtha J.N., Cox G.F., Curry C.J. et al. Hum. Mutat. 31:1142-1154(2010) · Mapped (2) |
| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. Dai J., Kim O.H., Cho T.J., Schmidt-Rimpler M., Tonoki H., Takikawa K., Haga N., Miyoshi K., Kitoh H., Yoo W.J. et al. J. Med. Genet. 47:704-709(2010) · UniProtKB (1) |
| Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Nishimura G., Dai J., Lausch E., Unger S., Megarbane A., Kitoh H., Kim O.H., Cho T.J., Bedeschi F., Benedicenti F. et al. Am. J. Med. Genet. A 152:1443-1449(2010) · UniProtKB (1) |
| TRPM5 regulates glucose-stimulated insulin secretion. Brixel L.R., Monteilh-Zoller M.K., Ingenbrandt C.S., Fleig A., Penner R., Enklaar T., Zabel B.U., Prawitt D. Pflugers Arch. 460:69-76(2010) · Mapped (2) |
| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., Alikasifoglu M., Tuncbilek E., Orhan D., Bakar F.T. et al. Am. J. Hum. Genet. 86:551-559(2010) · UniProtKB (1) · Mapped (5) |
| Osteopathia striata with cranial sclerosis owing to WTX gene defect. Perdu B., de Freitas F., Frints S.G., Schouten M., Schrander-Stumpel C., Barbosa M., Pinto-Basto J., Reis-Lima M., de Vernejoul M.C., Becker K. et al. J. Bone Miner. Res. 25:82-90(2010) · Mapped (1) |