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The role of X-linked genes in breast cancer
Breast Cancer Research and Treatment, 2005While contribution of X chromosome in the susceptibility of prostate and ovarian cancer has been demonstrated, the role of X-linked genes in breast carcinogenesis is not clearly known. This study investigated and compared the X-linked gene expression profiles of MMTV-c-myc transgenic mammary tumor (MT) or MMTV-c-myc/MT-tgf-alpha double transgenic mouse
Archana, Thakur +5 more
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Cytogenetic and Genome Research, 1998
Rearrangement of the X chromosome generates fertile XY females in the wood lemming, and a duplication has been discovered in Xp21 in some XY females in the human. This has enabled identification and mapping of a novel sex-reversing gene in the human, double dosage of which blocks development of the testis.
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Rearrangement of the X chromosome generates fertile XY females in the wood lemming, and a duplication has been discovered in Xp21 in some XY females in the human. This has enabled identification and mapping of a novel sex-reversing gene in the human, double dosage of which blocks development of the testis.
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Age related reactivation of an X-linked gene
Nature, 1987We have investigated age-related reactivation of the X chromosome by devising a model in which reactivation of a single gene in one cell among many can be identified. We have used mice with an X-autosomal translocation giving consistent non-random inactivation of the normal X (as judged by biochemical and cytogenetic techniques), that also carry a ...
K A, Wareham +3 more
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X-linked Gene for Testicular Feminization in the Mouse
Nature, 1970The condition of testicular feminization in mice resembles that in man and other mammals. It is clearly X-linked. There is no evidence at present that the gene for testicular feminization is involved in mouse spermatogenesis, at least up to the spermatocyte stage.
Lyon, M F, Hawkes, S G
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STS gene in a pedigree with X-linked ichthyosis
Journal of Huazhong University of Science and Technology [Medical Sciences], 2005To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a ...
An, Liu +6 more
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X-linked Genes and Gonadal Differentiation
1983It is now well established that genes on the X chromosome contribute to sexual development in mammals including man. Apart from the gene for the androgen receptor protein which has been mapped on the human X chromosome in its paracentric region [4], two other genes have been postulated to be X-linked which are involved in the H-Y antigen system: a gene
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Mutational Analysis of X-Linked Adrenoleukodystrophy Gene
Cell Biochemistry and Biophysics, 2000X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal disorder characterized by progressive neurological dysfunction, occasionally associated with adrenal insufficiency. The clinical phenotypes of ALD are quite variable, and include childhood ALD, adult-onset ALD, adrenomyeloneuropathy, and Addison's disease only.
H, Takano +3 more
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X-Linked ASDs and ID Gene Mutations
2016Intellectual disability (ID) defines a group of disorders that cause impairment in intellectual performance. Autism spectrum disorders (ASDs) cause deficits in communication and social skills in addition to repetitive and stereotyped behaviors. We focus our attention on IDs and ASDs caused by mutations within the X chromosome on genes that exert their ...
Moretto E, Passafaro M, Bassani S
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Targeted inactivation of the X‐linked adrenoleukodystrophy gene in mice
Journal of Neuroscience Research, 1997In its severe form, X-linked adrenoleukodystrophy (ALD) is a lethal neurologic disease of children, characterized by progressive cerebral demyelination and adrenal insufficiency. Associated with a biochemical defect of peroxisomal beta-oxidation, very long-chain fatty acids (VLCFA) build up in tissues that have a high turnover of lipids, such as ...
Forss-Petter, S. +8 more
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Gene Therapy of X-Linked Severe Combined Immunodeficiency
Current Opinion in Allergy and Clinical Immunology, 2002This review addresses several questions in the light of the results recently obtained by a gene therapy trial for the treatment of X-linked severe combined immunodeficiency. This primary immunodeficiency, characterized by a complete absence of T and natural killer lymphocytes, appeared as a good model for the application of gene therapy, combining an ...
Salima, Hacein-Bey-Abina +2 more
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