Výsledky vyhledávání - "Wayne E. Evans"

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

Autor: Michael J. Econs, Thomas Meitinger, Kenneth E. White, Bettina Lorenz-Depiereux, Tim M. Strom, Monika Grabowski, Jeffery L.H. O'Riordan, Marcy C. Speer, Wayne E. Evans

Publikováno v: Nature Genetics. 26:345-348

Proper serum phosphate concentrations are maintained by a complex and poorly understood process. Identification of genes responsible for inherited disorders involving disturbances in phosphate homeostasis may provide insight into the pathways that re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e30b3bb5b736134d4fcab55d2df117
https://doi.org/10.1038/81664

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Sib pair linkage and association studies between bone mineral density and the interleukin-6 gene locus

Autor: Michael J. Econs, Tatiana Foroud, Wayne E. Evans, Daniel L. Koller, Joe C. Christian, P. M. Conneally, Siu Hui, Munro Peacock, István Takács, C. Conrad Johnston

Publikováno v: Bone. 27:169-173

A major determinant of the risk for osteoporosis in later life is bone mineral density (BMD) attained during early adulthood. Bone mineral density is a complex trait that, presumably, is influenced by multiple genes. Interleukin-6 (IL-6) is an attrac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6807fc4a8b575028156e8b8ff33a9ff6
https://doi.org/10.1016/s8756-3282(00)00296-9

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Kinetics of autoxidation of cobalt(II) cyclidene dioxygen carriers

Autor: Wayne E. Evans, Daryle H. Busch, Mohamad Masarwa, P. Richard Warburton

Publikováno v: Inorganic Chemistry. 32:3826-3835

The cobalt(II) cyclidene complexes are known to bind dioxygen reversibly under ambient conditions; however, the lifetime of the dioxygen adduct is limited by autoxidation. This paper describes a study of the autoxidation reactions of the cobalt(II) c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f6d155af72d48281d9834ae8edca11ce
https://doi.org/10.1021/ic00070a011

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Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

Autor: Neil J. McLellan, David M. Ornitz, Xijie Yu, Nick Shaw, Kenneth E. White, Joanna Fields, Wayne E. Evans, Siobhan I. Davis, Kai Yu, Carole McKeown, David R. FitzPatrick, Tonya Fishburn, Michael J. Econs, Shoji Ichikawa, Jose M. Cabral

Publikováno v: White, K E, Cabral, J M, Davis, S I, Fishburn, T, Evans, W E, Ichikawa, S, Fields, J, Yu, X, Shaw, N J, McLellan, N J, McKeown, C, Fitzpatrick, D, Yu, K, Ornitz, D M & Econs, M J 2005, ' Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation ', American Journal of Human Genetics, vol. 76, no. 2, pp. 361-7 . https://doi.org/10.1086/427956

Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302a97bc3a76a7717c0135b9d4217bcb
https://hdl.handle.net/20.500.11820/458e9a00-9223-454f-b44d-7a747751490c

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Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

Autor: Kenneth E. White, Michelle L. Johnson, Maureen Kocisko, Tatiana Foroud, Michael J. Econs, Steven G. Waguespack, Gwenaelle Carn, Tonya Fishburn, Kenneth A. Buckwalter, Wayne E. Evans, Daniel L. Koller

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 18(8)

ADO2 is an uncommon sclerosing bone disorder with incomplete penetrance and variable expressivity. Positional candidate studies were performed to identify the gene responsible for ADO2. In 11 of 12 kindreds, five different missense mutations were ide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c242513aa37e2accf6223f4f6af5787f
https://pubmed.ncbi.nlm.nih.gov/12929941

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Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13

Autor: Munro Peacock, Michael J. Econs, Tatiana Foroud, Siu L. Hui, P. Michael Conneally, C. Conrad Johnston, Wayne E. Evans, Daniel L. Koller, Gwenaelle Carn

Publikováno v: The Journal of clinical endocrinology and metabolism. 87(8)

A major determinant of the risk of osteoporosis is peak bone mineral density (BMD), which has been shown to have substantial heritability. The genes for 3 BMD-related phenotypes (autosomal dominant high bone mass, autosomal recessive osteoporosis-pse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1845dae03c42c74b1ae28b441ead68b
https://pubmed.ncbi.nlm.nih.gov/12161516

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Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

Autor: Wayne E. Evans, Bettina Lorenz, Thomas Meitinger, Michael J. Econs, Kenneth E. White, Tim M. Strom

Publikováno v: Gene. 246(1-2)

The UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (ppGaNTase) family of enzymes initiates mucin-like O-glycosylation of specific proteins. Using exon-prediction analysis on genomic sequence from human chromosome 12p13.3, we identified nove

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b61199e0c5458d5f9d6da55595ce4d1b
https://pubmed.ncbi.nlm.nih.gov/10767557

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