SCOPUS 정보 검색 플랫폼

Mammalian Genome

Volumn 8, Issue 8, 1997, Pages 543-544

Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness

(1) Meisler, Miriam a

a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHEX PROTEIN, HUMAN; PHEX PROTEIN, MOUSE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEIN; PROTEINASE;

ANIMAL; DOMINANT GENE; FEMALE; GENETICS; HEARING IMPAIRMENT; HUMAN; HYPOPHOSPHATEMIA; MALE; METABOLISM; MOUSE; MUTATION; PHENOTYPE; REVIEW; X CHROMOSOME;

ANIMALS; DEAFNESS; ENDOPEPTIDASES; FEMALE; GENES, DOMINANT; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MALE; MICE; MUTATION; PHENOTYPE; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEINS; X CHROMOSOME;

ANIMALIA;

EID: 0031202651 PISSN: 09388990 EISSN: None Source Type: Journal
DOI: 10.1007/s003359900499 Document Type: Review

Times cited : (2)

References (8)

1
- 10144229346
- A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22
- del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernandez FJ, Rodriguez M, Borras I, Montero A, Bellon J, Tapia MC, Moreno F (1996) A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum Mol Genet 5, 1383-1387
- (1996) Hum Mol Genet , vol.5 , pp. 1383-1387
- Del Castillo, I.¹ Villamar, M.² Sarduy, M.³ Romero, L.⁴ Herraiz, C.⁵ Hernandez, F.J.⁶ Rodriguez, M.⁷ Borras, I.⁸ Montero, A.⁹ Bellon, J.¹⁰ Tapia, M.C.¹¹ Moreno, F.¹²

2
- 0030586965
- cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone
- Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B (1996) cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics 36, 22-28
- (1996) Genomics , vol.36 , pp. 22-28
- Du, L.¹ Desbarats, M.² Viel, J.³ Glorieux, F.H.⁴ Cawthorn, C.⁵ Ecarot, B.⁶

3
- 0017032590
- Hypophosphatemia: Mouse model for human familial hypophospathemic (vitamin D-resistant) rickets
- Eicher EM, Southard JL, Scriver CR, Glorieux GH (1976) Hypophosphatemia: mouse model for human familial hypophospathemic (vitamin D-resistant) rickets. Proc Natl Acad Sci USA 73, 4667-4671
- (1976) Proc Natl Acad Sci USA , vol.73 , pp. 4667-4671
- Eicher, E.M.¹ Southard, J.L.² Scriver, C.R.³ Glorieux, G.H.⁴

4
- 0029160578
- A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
- HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genet 11, 130-136
- (1995) Nature Genet , vol.11 , pp. 130-136

5
- 0343635917
- The Gy mutation: Another cause of X-linked hypophosphatemia in mouse
- Lyon MF, Scriver CR, Baker LRI, Tenenhouse HS, Kronick J, Mandla S (1986) The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci USA 83, 4899-4903
- (1986) Proc Natl Acad Sci USA , vol.83 , pp. 4899-4903
- Lyon, M.F.¹ Scriver, C.R.² Baker, L.R.I.³ Tenenhouse, H.S.⁴ Kronick, J.⁵ Mandla, S.⁶

6
- 0030022097
- The gene for X-linked hypophosphatemic rickets maps to a 200-300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)
- Rowe PSN, Goulding JN, Francis F, Oudet C, Econs MJ, Hanauer A, Lehrach H, Read AP, Mountford RC, Summerfield T, Weissenbach J, Fraser W, Drezner MK, Davies KE, O'Riordan JLH (1996) The gene for X-linked hypophosphatemic rickets maps to a 200-300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE). Hum Genet 97, 345-352
- (1996) Hum Genet , vol.97 , pp. 345-352
- Rowe, P.S.N.¹ Goulding, J.N.² Francis, F.³ Oudet, C.⁴ Econs, M.J.⁵ Hanauer, A.⁶ Lehrach, H.⁷ Read, A.P.⁸ Mountford, R.C.⁹ Summerfield, T.¹⁰ Weissenbach, J.¹¹ Fraser, W.¹² Drezner, M.K.¹³ Davies, K.E.¹⁴ O'Riordan, J.L.H.¹⁵

7
- 0029562474
- Inherited hearing defects in mice
- Steel KP (1995) Inherited hearing defects in mice. Annu Rev Genet 29, 675-701
- (1995) Annu Rev Genet , vol.29 , pp. 675-701
- Steel, K.P.¹

8
- 0030615069
- Pex gene deletions in Gv and Hyp mice provide mouse models for X-linked hypophosphatemia
- Strom TM, Francis F, Lorenz B, Böddrich A, Econs MJ, Lehrach H, Meitinger T (1997) Pex gene deletions in Gv and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6, 165-171
- (1997) Hum Mol Genet , vol.6 , pp. 165-171
- Strom, T.M.¹ Francis, F.² Lorenz, B.³ Böddrich, A.⁴ Econs, M.J.⁵ Lehrach, H.⁶ Meitinger, T.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.