Results 141 to 150 of about 750,648 (173)

X-linked sex-reversing genes

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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X-Linked ASDs and ID Gene Mutations

2016
Intellectual 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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Lipophilin (PLP) Gene in X‐linked myelin disorders

Journal of Neuroscience Research, 1986
AbstractThere are several X‐linked diseases in animals and at least one in man in which there is a failure of CNS myelination. We have recently cloned cDNAs for lipophilin (PLP) with which PLP sequences were localized to a region of the long arm of the X chromosome (Xq13–q22 in man) close to the jimpy (jp) locus in that mouse mutant.
S, Fahim, J R, Riordan
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X‐LINKED GENE LOCI AND MUSCULAR DYSTROPHY

Australian Journal of Experimental Biology and Medical Science, 1981
SummaryIt is proposed that examination of known X‐linked gene products might elucidate the gene loci and genetic defects underlying X‐linked muscular dystrophies. On the basis of this hypothesis, kinetic studies were performed on the enzyme phosphoglycerate kinase (E.C.
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Age related reactivation of an X-linked gene

Nature, 1987
We 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, M F, Lyon, P H, Glenister, E D, Williams   +3 more
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X-linked Genes and Gonadal Differentiation

1983
It 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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X-linked Genes and Sex Chromosomes

2017
This chapter discusses the presence or absence of sex chromosomes that determines the sex of the individual. It explains that sex is defined by having two different sex chromosomes or being heterogametic, such as human males that are XY. It also looks at the consequences for the inheritance of genes on the X chromosome, wherein different patterns of ...
Philip Meneely, Rachel Dawes Hoang, Rachel Dawes Hoang, Iruka N. Okeke, Katherine Heston   +4 more
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X‐linked neuropathy: Gene localization with DNA probes

Annals of Neurology, 1986
AbstractWe used probes for DNA polymorphisms on the X chromosome to study genetic linkage in four families with X‐linked neuropathy. Despite clinical variability, all four families showed the same linkage pattern. We found evidence in each family of linkage to the marker DXYS1 on the proximal long arm of the X chromosome, as reported by others. We also
K H, Fischbeck, N, ar-Rushdi, M, Pericak-Vance, M, Rozear, A D, Roses, J P, Fryns   +5 more
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X-linked dilated cardiomyopathy and the dystrophin gene

Neuromuscular Disorders, 1999
X-linked dilated cardiomyopathy (XLDC) represents a well known genetic disease, allelic to Duchenne and Becker muscular dystrophies and caused by dystrophin gene mutations. XLDC is a rare disease and only few families have been fully characterised. In several of them, the dystrophin mutations show a different pattern of expression in cardiac compared ...
FERLINI, Alessandra, SEWRY C, MELIS MA, MATEDDU A, MUNTONI F.   +4 more
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Gene expression analyses in X-linked myotubular myopathy

Neurology, 2005
X-linked myotubular myopathy (XLMTM) is a severe congenital disorder characterized by marked muscle weakness and hypotonia. Myotubularin, the protein product of the causative gene, MTM1, is thought to be a phosphatase for phosphatidylinositol-3-phosphate and may be involved in membrane trafficking.
S, Noguchi, M, Fujita, K, Murayama, R, Kurokawa, I, Nishino   +4 more
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