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Titolo:
Skewed X inactivation in X-linked disorders
Autore:
Van den Veyver, IB;
Indirizzi:
Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 tet & Gynecol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Div Maternal Fetal Med, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 nal Fetal Med, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Div Reprod Genet, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 Reprod Genet, Houston, TX 77030 USA
Titolo Testata:
SEMINARS IN REPRODUCTIVE MEDICINE
fascicolo: 2, volume: 19, anno: 2001,
pagine: 183 - 191
SICI:
1526-8004(200106)19:2<183:SXIIXD>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECURRENT SPONTANEOUS-ABORTION; TERMINAL OSSEOUS DYSPLASIA; WISKOTT-ALDRICH-SYNDROME; FOCAL DERMAL HYPOPLASIA; SKIN DEFECTS MLS; INNER CELL MASS; CHROMOSOME-INACTIVATION; RETT-SYNDROME; INCONTINENTIA PIGMENTI; AUTOSOME TRANSLOCATIONS;
Keywords:
X-linked disorders; X inactivation; skewed;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
89
Recensione:
Indirizzi per estratti:
Indirizzo: Van den Veyver, IB Baylor Coll Med, Dept Obstet & Gynecol, 6550 Fannin,Suite 901, Houston, TX77030 USA Baylor Coll Med 6550 Fannin,Suite 901 Houston TX USA 77030
Citazione:
I.B. Van den Veyver, "Skewed X inactivation in X-linked disorders", SEMIN REP M, 19(2), 2001, pp. 183-191

Abstract

X chromosome inactivation is a process by which the dosage of proteins transcribed from genes on the X chromosome is equalized between males (XY) andfemales (XX) through the silencing of most genes on one of the two X chromosomes in fe males. Although the choice of which of the two X's is inactivated is entirely random, not all women have a 50:50 ratio of cells with one or the other X chromosomes active. A number of different mechanisms lead toextremely skewed ratios and this can result in expression of the phenotypeof X-linked recessive disorders in females. Nonrandom X inactivation patterns are also associated with selective female survival in male-lethal X-linked dominant disorders or with variable severity of the phenotype in women carrying X-linked dominant mutations. These features are important for the study and gene identification of X-linked disorders and for counseling of affected families.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 03:22:49