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Literature DB >> 5225441

Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis.

C J Witkop.

Abstract

Entities: Disease Gene Mutation

Mesh：

Year: 1967 PMID： 5225441 DOI： 10.1016/0030-4220(67)90092-8

Source DB: PubMed Journal: Oral Surg Oral Med Oral Pathol ISSN： 0030-4220

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13 in total

1. X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney.

Authors: E D Shields; C R Scriver; T Reade; T M Fujiwara; K Morgan; A Ciampi; S Schwartz
Journal: Am J Hum Genet Date: 1990-03 Impact factor: 11.025

2. X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors: F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal: Am J Hum Genet Date: 1976-07 Impact factor: 11.025

Review 3. The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

Authors: J Timothy Wright
Journal: Am J Med Genet A Date: 2006-12-01 Impact factor: 2.802

4. Amelogenin phosphorylation regulates tooth enamel formation by stabilizing a transient amorphous mineral precursor.

Authors: Nah-Young Shin; Hajime Yamazaki; Elia Beniash; Xu Yang; Seth S Margolis; Megan K Pugach; James P Simmer; Henry C Margolis
Journal: J Biol Chem Date: 2020-01-09 Impact factor: 5.157

5. Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta.

Authors: J J Sauk; H W Lyon; C J Witkop
Journal: Am J Hum Genet Date: 1972-05 Impact factor: 11.025

6. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.

Authors: E C Salido; P H Yen; K Koprivnikar; L C Yu; L J Shapiro
Journal: Am J Hum Genet Date: 1992-02 Impact factor: 11.025

7. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1).

Authors: M J Aldred; P J Crawford; E Roberts; N S Thomas
Journal: Hum Genet Date: 1992-12 Impact factor: 4.132