Results 271 to 280 of about 919,210 (312)

The abnormal gene in X-linked lymphoproliferative syndrome

Current Opinion in Immunology, 1999
The gene defect responsible for X-linked lymphoproliferative syndrome, SH2D1A (SH2-domain-containing gene 1A), was recently cloned. This gene encodes a small protein of 128 amino acids containing a single SH2 domain, which is thought to play an important role in signal transduction in activated T cells.
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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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Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

Nature Medicine, 1998
As more functional redundancy in mammalian cells is discovered, enhanced expression of genes involved in alternative pathways may become an effective form of gene therapy. X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired very-long-chain fatty acid metabolism. The X-ALD gene encodes a peroxisomal membrane protein (ALDP) that
Kemp, S., Wei, H. M., Lu, J. F., Braiterman, L. T., McGuinness, M. C., Moser, A. B., Watkins, P. A., Smith, K. D.   +7 more
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X-linked Retinoschisis and Gene Therapy

International Ophthalmology Clinics, 2021
Alaknanda, Mishra, Paul A, Sieving
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X-linked hydrocephalus: a novel missense mutation in the L1CAM gene

Pediatric Neurology, 2002
X-linked hydrocephalus is associated with mutations in the L1 neuronal cell adhesion molecule gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. A male is described with X-linked hydrocephalus who had multiple small gyri, hypoplasia of the white matter, agenesis of the ...
Sztriha, L, Vos, YJ, Verlind, E, Johansen, J, Berg, B   +4 more
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A duplication in the L1CAM gene associated with X–linked hydrocephalus

Nature Genetics, 1993
Recently, a mutation in the gene for the neural cell adhesion molecule L1CAM, located at chromosome Xq28, was found in a family with X-linked hydrocephalus (HSAS). However, as the L1CAM mutation could only be identified in one HSAS family, it remained unclear whether or not L1CAM was the gene responsible for HSAS.
Van Camp, G., Vits, L., Coucke, P., Lyonnet, S., Schrander-Stumpel, C., Darby, J., Holden, J., Munnich, A., Willems, P.J.   +8 more
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Potential Application of Gene Therapy to X-Linked Agammaglobulinemia

Current Gene Therapy, 2007
X-linked agammaglobulinemia (XLA), or Bruton's disease, is the most common human primary humoral immunodeficiency. XLA is caused by mutations of the Bruton's tyrosine kinase (BTK), a key regulator of B-cell physiology. Since the mid 80's, substitutive therapy by intravenous gammaglobulin infusions has significantly improved XLA patient survival and ...
Thomas, Moreau, Boris, Calmels, Vincent, Barlogis, Gérard, Michel, Cécile, Tonnelle, Christian, Chabannon   +5 more
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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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Localization of the gene for X‐linked spinal muscular atrophy

Neurology, 1986
We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in seven families with X-linked adult-onset spinal muscular atrophy. We found significant linkage to the marker DXYS1 on the proximal X chromosome long arm and loose linkage or nonlinkage to markers elsewhere.
Kenneth H. Fischbeck, Victor Ionasescu, Albert W. Ritter, Rebecca Ionasescu, Kay Davies, Sarah Ball, Peter Bosch, Trude Burns, Irena Hausmanowa-Petrusewicz, Janina Borkowska, Steven P. Ringel, Lawrence Z. Stern   +11 more
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Characterization of the X-linked murine centrin Cetn2 gene

Gene, 2001
A multi-gene family (Cetn1, Cetn2, and Cetn3) encodes the calcium-binding protein, centrin, in the mouse. This work characterizes the Cetn2 gene. Structurally, Cetn2 consists of five exons and four introns, and contains a classical TATA-less promoter.
P E, Hart, G M, Poynter, C M, Whitehead, J D, Orth, J N, Glantz, R C, Busby, S L, Barrett, J L, Salisbury   +7 more
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