Results 151 to 160 of about 750,648 (173)
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X-linked agammaglobulinemia - gene cloning and future prospects
Immunology Today, 1993The btk gene has recently been identified as the causative gene in X-linked agammaglobulinemia (XLA). This has opened up many new possibilities for the treatment of this B-cell immunodeficiency. Christine Kinnon and colleagues review the high degree of sequence of homology of btk to the non-receptor tyrosine kinases and speculate on putative roles for ...
C, Kinnon +3 more
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Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy
Nature Medicine, 1998As 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. +7 more
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The abnormal gene in X-linked lymphoproliferative syndrome
Current Opinion in Immunology, 1999The 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 Retinoschisis and Gene Therapy
International Ophthalmology Clinics, 2021Alaknanda, Mishra, Paul A, Sieving
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[Gene diagnosis of X-linked agammaglobulinemia].
Zhonghua er ke za zhi = Chinese journal of pediatrics, 2010X-linked agammaglobulinemia (XLA) is the most common disorder among primary immunodeficiency diseases, which is caused by mutations in the cytoplasmic Bruton's tyrosine kinase (BTK) gene, characterized by lack of mature, circulating B lymphocytes, hypogammaglobulinemia, and recurrent bacterial infections. Mutations in BTK are highly diverse.
Xiao-chuan, Wang +4 more
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X-linked hydrocephalus: a novel missense mutation in the L1CAM gene
Pediatric Neurology, 2002X-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 +4 more
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Localization of non‐specific X‐linked mental retardation genes
American Journal of Medical Genetics, 1992AbstractGene localization was determined by linkage analysis in 5 families with non‐specific X‐linked mental retardation (MRX) and were MRX1, Xp11.4‐q21.31; MRX10, Xp21.3‐p11.4; MRX11, Xp21.3‐p11.22; MRX12, Xp21.3‐q21.1; and MRX13, Xp22.3‐q21.22. Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX.
B, Kerr, A, Gedeon, J, Mulley, G, Turner
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Gene Therapy for X-Linked Myotubular Myopathy
2019X-linked myotubular myopathy (XLMTM) emerges from mutations in the MTM1 gene and affects around 1 in 50,000 live-born male infants. This congenital myopathy has currently no treatment and leads to a severe impairment of motor skills and ventilation and premature death. In this chapter, we synthetize the results of gene therapy studies using recombinant
Jean-Baptiste Dupont +2 more
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Lentiviral Hematopoietic Cell Gene Therapy for X-Linked Adrenoleukodystrophy
2012X-linked adrenoleukodystrophy (X-ALD) is a severe genetic demyelinating disease caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. When performed at an early stage of the disease, allogeneic hematopoietic stem cell transplantation (HCT) can arrest the progression of cerebral ...
Nathalie, Cartier +8 more
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[Gene deletion of X-linked ichthyosis].
Zhonghua yi xue za zhi, 1992The characterization of steroid sulfatase (STS) gene mutation from seven X-linked ichthyotic patients was performed by multiple polymerase chain reaction (MPCR) which amplified two specific regions at the 5' and 3' end of STS gene. The results indicated that five out seven patients were found to have entire STS gene deletion.
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