Results 251 to 260 of about 919,210 (312)

Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

Science, 1993
Mice that bear the X-linked immunodeficiency ( xid ) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (
J D, Thomas, P, Sideras, C I, Smith, I, Vorechovský, V, Chapman, W E, Paul   +5 more
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Gene diagnosis in X-linked ichthyosis

Archives of Dermatological Research, 1989
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes.
F H, Herrmann, B, Wirth, K, Wulff, J, Hadlich, M, Voss, E F, Gillard, T A, Kruse, M A, Ferguson-Smith, A, Gal   +8 more
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X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes

Neurochemical Research, 1999
X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-chain acyl-CoA synthetase (VLCS) activity, are ubiquitous features of the disease.
Smith, K. D., Kemp, S., Braiterman, L. T., Lu, J. F., Wei, H. M., Geraghty, M., Stetten, G., Bergin, J. S., Pevsner, J., Watkins, P. A.   +9 more
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An abundance of X-linked genes expressed in spermatogonia

Nature Genetics, 2001
Spermatogonia are the self-renewing, mitotic germ cells of the testis from which sperm arise by means of the differentiation pathway known as spermatogenesis. By contrast with hematopoietic and other mammalian stem-cell populations, which have been subjects of intense molecular genetic investigation, spermatogonia have remained largely unexplored at ...
P J, Wang, J R, McCarrey, F, Yang, D C, Page   +3 more
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Expression of the Gene Defect in X-Linked Agammaglobulinemia

New England Journal of Medicine, 1986
Although X-linked agammaglobulinemia was one of the first immunodeficiencies described,1 the genetic defect responsible for this disorder has not yet been identified.
M E, Conley, P, Brown, A R, Pickard, R H, Buckley, D S, Miller, W H, Raskind, J W, Singer, P J, Fialkow   +7 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
openaire   +2 more sources