{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T13:26:30Z","timestamp":1726406790604},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":4993,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Teratology"],"published-print":{"date-parts":[[1991,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010Linked hypophosphatemia is the most common cause of metabolic rickets in humans and is characterized by a reduced renal TmP\/GFR and hypophosphatemia. Clinically, these changes are associated with growth retardation including attenuated craniofacial growth, femoral and tibial bowing, and radiologic and histomorphometric evidence of rickets and osteomalacia. Similar mutations occur in mice at the <jats:italic>Hyp<\/jats:italic> and <jats:italic>Gy<\/jats:italic> gene loci. Direct craniometric measurements were made on mouse skulls to investigate the pattern of craniofacial growth differences in the <jats:italic>Hyp\/ +, Hyp\/Hyp and Gy\/ +<\/jats:italic> genotypes and to compare these to littermate normals in the C57BL\/6J mouse strain. There was generalized attenuation in craniofacial growth in all mutants. The heterozygous <jats:italic>Hyp<\/jats:italic> and <jats:italic>Gy<\/jats:italic> mutants showed similar patterns of craniofacial growth with diminished neurocranial length, viscerocranial length, and mandibular height. The <jats:italic>Gy\/<\/jats:italic> + was significantly smaller than the <jats:italic>Hyp\/<\/jats:italic> + in neurocranial width. The homozygous <jats:italic>Hyp<\/jats:italic> mouse was not affected more severely than the heterozygous <jats:italic>Hyp<\/jats:italic> except in overall cranial length, nasal bone length, and mandibular length from mandibular foramen to third molar. In summary, the heterozygous <jats:italic>Hyp<\/jats:italic> and <jats:italic>Gy<\/jats:italic> mutant mice showed similar patterns of craniofacial growth. The homozygous <jats:italic>Hyp<\/jats:italic> mouse was not affected more severely than the heterozygous <jats:italic>Hyp<\/jats:italic> except in three of the 15 measured variables. Thus, these data demonstrate the almost complete dominance of the <jats:italic>Hyp<\/jats:italic> gene. In contrast, the <jats:italic>Gy<\/jats:italic> gene is incompletely dominant. The heterozygous <jats:italic>Gy<\/jats:italic> females survive, but the hemizygous <jats:italic>Gy<\/jats:italic> males do not, on a C57BL\/6J background. This suggests that there is a family of closely linked genes on the X chromosome which, while similar in their effects on phosphate homeostasis, have differing mechanisms of action.<\/jats:p>","DOI":"10.1002\/tera.1420440412","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T11:46:23Z","timestamp":1118490383000},"page":"463-472","source":"Crossref","is-referenced-by-count":7,"title":["Craniofacial abnormalities in mice with X\u2010Linked hypophosphatemic genes (<i>Hyp<\/i> or <i>Gy<\/i>)"],"prefix":"10.1002","volume":"44","author":[{"given":"Navin S.","family":"Shetty","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Ralph A.","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(66)90279-9"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270434"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1097\/00003086-198709000-00039","article-title":"Mineral uptake by the femora of older female X\u2010linked hypophosphatemic (Hyp) mice but not older male Hyp mice","volume":"222","author":"Brault B. A.","year":"1987","journal-title":"Clin. Orthop."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114442"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.12.4667"},{"key":"e_1_2_1_7_1","unstructured":"Ferguson D. J. W. A.Roy L. G.Sigman andC. R.Wilson(unpublished manuscript)Craniofacial pattern in X\u2010linked dominant hypophosphatemia."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1834-7819.1960.tb01937.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420220305"},{"key":"e_1_2_1_10_1","first-page":"1013","article-title":"Skull growth in achondroplastic (CN) mice: A craniometric study","volume":"33","author":"Jolly R. J.","year":"1975","journal-title":"J. Embryol. Exp. Morphol."},{"key":"e_1_2_1_11_1","first-page":"8","article-title":"The William Allan Memorial Award Address: X\u2010Chromosome Inactivation and the Location and Expression of X\u2010Linked Genes","volume":"42","author":"Lyon M. F.","year":"1988","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.13.4899"},{"key":"e_1_2_1_13_1","first-page":"259","article-title":"Dental and cephalometric findings in vitamin\u2010D resistant rickets","volume":"32","author":"Marks S. C.","year":"1965","journal-title":"J. Dent. Child."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9969(82)90160-1"},{"key":"e_1_2_1_15_1","first-page":"2581","volume-title":"The Metabolic Basis of Inherited Disease","author":"Rasmussen H.","year":"1989"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80192-X"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0221-8747(82)90026-1"},{"key":"e_1_2_1_18_1","first-page":"321","article-title":"Ovariectomy abolishes the normalization of femoral mineral content in 40\u2010week\u2010old female X\u2010linked hypophosphatemic mice","volume":"14","author":"Soener R. A.","year":"1988","journal-title":"Miner. Electrolyte Metab."},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.1968.0172"},{"volume-title":"Biostatistical Analysis","year":"1984","author":"Zar J. H.","key":"e_1_2_1_20_1"}],"container-title":["Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Ftera.1420440412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/tera.1420440412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T20:18:00Z","timestamp":1698005880000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/tera.1420440412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,10]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,10]]}},"alternative-id":["10.1002\/tera.1420440412"],"URL":"https:\/\/doi.org\/10.1002\/tera.1420440412","archive":["Portico"],"relation":{},"ISSN":["0040-3709","1096-9926"],"issn-type":[{"type":"print","value":"0040-3709"},{"type":"electronic","value":"1096-9926"}],"subject":[],"published":{"date-parts":[[1991,10]]}}}