Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.7.10.2 (focal adhesion kinase)
44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The genetic defect associated with human X-linked agammaglobulinemia and murine X-linked immunodeficiency was recently shown to result from lack of function of a new cytoplasmic tyrosine kinase, called Bruton's tyrosine kinase (Btk). The phenotypes associated with these immunodeficiencies indicate that Btk plays a critical role in B-lymphocyte development. The distinctive protein structure of Btk and preliminary functional studies suggest that Btk may act in a novel manner in a variety of signaling pathways.
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PMID:Role of Bruton's tyrosine kinase in immunodeficiency. 794 52

The first case of human immunodeficiency virus (HIV) infection/acquired immunodeficiency syndrome (AIDS) in Japan was diagnosed in a homosexual male in 1985. The Ministry of Health and Welfare formed the AIDS Surveillance Committee, which published HIV seropositive and AIDS data at 2-month intervals. Excluding persons infected through blood products there were 971 HIV seropositives by April 1993, and 204 reported cases of AIDS. One of the epidemiological characteristics of HIV infection and AIDS in Japan is the rapid increase of cases of transmission through heterosexual contact since 1991. Before this, homosexual transmission was the commonest reported mode of transmission. Sporadic cases of mother-to-child transmission and some cases due to injecting drug use were also reported. It is predicted that heterosexual contact will be the primary mode of transmission of HIV in the future. Virtually all the diagnosed AIDS cases so far have been reported to this surveillance network, and it will be an important task of the network to monitor the HIV seropositive cases.
Int J STD AIDS
PMID:Epidemiological characteristics on human immunodeficiency virus infection and acquired immunodeficiency syndrome in Japan. 794 58

To obtain baseline data and reference material for the design of human immunodeficiency virus (HIV) prevention programs, condom use among Hong Kong's commercial sex workers was investigated for the first time. Interviews were conducted with 190 female sex workers and 633 male clients recruited from Department of Health Social Hygiene Clinics between April and mid-May 1993. Frequency of condom use per 10 sexual contacts was rated as never, seldom (1-3), sometimes (4-6), often (7-9), or always. With paying male clients, these rates were 11,1%, 7.4%, 11.1%, 32.1%, and 37.9%, respectively. With non-paying sexual partners, however, these rates were 51.6%, 3.7%, 7.9%, and 18.4%. There was a significant difference in condom use rates with clients between sex workers over 30 years of age (64%) and their younger counterparts (87%). Among the male clients of prostitutes, condom use was as follows: never, 11.1%; seldom, 11.7%; sometimes, 9.6%; often, 17.5%; and always, 45.2%. The reasons most frequently cited by these men for non-use of condoms were: sexual partner considered reliable (46%), reduced sexual pleasure (26%), and lack of availability (22%). On the other hand, 86% indicated they would use a condom if convinced it would reduce the risk of HIV and other sexually transmitted diseases and 43% would use condoms if requested or provided by their partner. These findings suggest that the transmission of HIV by female sex workers could be substantially curtailed through the provision of free condoms to prostitutes, counseling to enable these women to take the initiative in insisting on condom use, and educational campaigns that emphasize the effectiveness of condoms in HIV prevention.
Int J STD AIDS
PMID:Condom use among female commercial sex workers and male clients in Hong Kong. 794 61

A gene for a novel, putative cytoplasmic tyrosine kinase, TXK has been isolated from a human peripheral blood cDNA library. The complete nucleotide sequence of the cDNA indicates that it is related most closely to EMT, a tyrosine kinase of T cells and to the B-cell tyrosine kinase Btk, which is mutated in X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency disease (XID) in mouse. TXK, like BTK, is a member of the Tec sub-family of Src-type (non-receptor) tyrosine kinases. Like similar Tec sub-family members, and unlike the other Src kinases, TXK lacks both the N-terminal myristylation signal and the C-terminal regulatory tyrosine. TXK expression is detected primarily in T cells and some myeloid cell lines but not in a number of other cell types. TXK shares 60% amino acid homology with EMT and 57% with BTK over the SH3, SH2 (Src-homology) and catalytic domains but unlike BTK, EMT and tec, it lacks Gap 1 homology and steroid hormone receptor homology in the N-terminal region. Genomic clones containing TXK have been isolated and hybridize to chromosome position 4p12.
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PMID:TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12. 795 Dec 33

Btk is a cytoplasmic protein tyrosine kinase (PTK) that has been directly implicated in the pathogenesis of X-linked agammaglobulinaemia (XLA) in humans and X-linked immunodeficiency (Xid) in mice. We have isolated phage and cosmid clones that allowed us to deduce the genomic structure of mouse and human Btk loci. The mouse and human genes are contained within genomic regions that span approximately 43.5 kb and 37.5 kb, respectively. Both loci contain 18 coding exons ranging between 55 and 560 bp in size with introns ranging in size from 164 bp to approximately 9 kb. The 5'-untranslated regions are encoded by single exons located approximately 9 kb upstream of the first coding exon. Exon 18 encodes for the last 23 carboxyl-terminal amino acids and the entire 3'-untranslated region. The location of intron/exon boundaries in the catalytic domains of the mouse and human Btk loci differs from that found in other described sub-families of intracellular PTKs, namely that of Src, Fes/Fer, Csk, and Abl/Arg. This observation is consistent with the classification of Btk together with the recently characterized kinases, Tec and Itk, into a separate sub-family of cytoplasmic PTKs. Putative transcription initiation sites in the mouse and human Btk loci have been determined by using the rapid amplification of cDNA ends assay. Similar to many other PTK specific genes, the putative Btk promoters lack obvious TATAA and CAAAT motifs. Putative initiator elements and potential binding sites for Ets (PEA-3), zeste, and PuF transcription factors are located within the 300 bp which are located upstream of the major transcription start site in both species. These sequences can mediate promoter activity when placed upstream of a promotorless chloramphenicol acetyl transferase reporter gene in an orientation-dependent manner. The present analysis will significantly facilitate the mutational analyses of patients with XLA and the further characterization of the function and regulation of the Btk molecule.
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PMID:Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci. 798 60

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease associated with a block in differentiation from pre-B to B cells. The XLA gene encodes a 659 amino acids cytoplasmic protein tyrosine kinase named btk (Bruton's tyrosine kinase). The few btk gene alterations so far reported in XLA patients are heterogenous and distributed in all domains of the btk protein. They appear to be responsible for a range of B cell immunodeficiency disorders of variable severity. Rare families in which XLA is inherited together with isolated growth hormone deficiency (IGHD) have been reported. Genetic analysis has shown that this disease association maps to the same region of the X chromosome as XLA, but whether the two phenotypes are caused by a common or different developmental or biochemical mechanism is unknown. We have analyzed the btk gene of a patient with XLA and IGHD. RT-PCR analysis of btk transcripts, sequencing data obtained from cDNA and genomic DNA and in vitro splicing assays showed that an intronic point mutation (1882 + 5G-->A) is responsible for skipping of an exon located in the tyrosine kinase domain. This exon-skipping event results in a frameshift leading to a premature stop codon 14 amino acids downstream, and in the loss of the last 61 residues of the carboxy-terminal end of the protein. Although we studied a sporadic case, the results suggest that an alteration of the btk gene might cause this unusual phenotype.
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PMID:An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 801 27

Bruton's tyrosine kinase (Btk) is a recently described B-cell-specific tyrosine kinase. Mutations in this gene lead to human X chromosome-linked agammaglobulinemia and murine X-linked immunodeficiency. Although genetic evidence strongly suggests that Btk plays a crucial role in B-lymphocyte differentiation and activation, its precise mechanism of action remains unknown, primarily because the proteins that it interacts with have not yet been identified. Here, we show that Btk interacts with Src homology 3 domains of Fyn, Lyn, and Hck, protein-tyrosine kinases that get activated upon stimulation of B- and T-cell receptors. These interactions are mediated by two 10-aa motifs in Btk. An analogous site with the same specificity is also present in Itk, the T-cell-specific homologue of Btk. Our data extend the range of interactions mediated by Src homology 3 domains and provide an indication of a link between Btk and established signaling pathways in B lymphocytes.
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PMID:Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction. 805 72

Pulmonary involvement is a frequent feature of patients infected with the human immunodeficiency virus (HIV). Pneumocystis carinii pneumonia (PCP) is still the commonest AIDS defining diagnosis despite the advent of effective prophylaxis and antiretroviral treatment. Other pulmonary manifestations of AIDS, including tuberculosis, may pose a greater problem in the future. The clinical manifestations of HIV-disease are many and varied, and changing as the disease is modified by therapeutic interventions. With specific and increasingly effective treatments the need for definitive diagnosis is obvious. Fibreoptic bronchoscopy is a well established tool for the diagnosis of HIV-related pulmonary complications. This article aims to give an account on the use of bronchoscopy in a unit providing care for many HIV seropositive patients.
Int J STD AIDS
PMID:The role of bronchoscopy in patients with HIV disease. 806 Oct 87

To start an active sexual activity at an earlier age and with a larger number of partners, has arousen the frequency of sexually transmitted diseases (STS). The teenagers are a group particularly affected. The objective of this article is to report the etiology of STD in a group of teenagers, out-patients at the Instituto Nacional de Perinatologia (INPer). The study includes 1360 patients at the clinic of STD at the INPer, 8.5 percent were less than 20 years old; 18.9 percent of them had previously a STD. The most frequent pathology was cervicovaginitis and the most frequently isolated pathogens were Candida sp, Gardnerella vaginalis and Ureaplasma urealyticum. There were no cases of gonorrhea. Three patients had Immunodeficiency Syndrome.
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PMID:[Sexually transmitted diseases (STDs) in a group of adolescents attending a perinatal care institute]. 806 80

X chromosome-linked agammaglobulinemia is a life-threatening disease that involves a failure in normal development of B lymphocytes and is associated with missense mutations in BTK, a gene encoding a cytoplasmic tyrosine kinase (Bruton agammaglobulinemia tyrosine kinase, EC 2.7.1.112), a member of the Tec family of protein-tyrosine kinases. The genomic organization has been determined by using conventional restriction fragment mapping, extended DNA sequencing, and PCR fragment-sizing approaches. The DNA sequences of the 18 coding exons composing BTK and their flanking-region sequences are reported; an additional exon(s) encodes a 5' untranslated segment. Single-base-pair substitutions and 4-nt deletions resulted in amino acid replacement, premature termination, frameshift, and exon deletion in a group of X chromosome-linked agammaglobulinemia patients exhibiting different clinical presentations and courses. The nature of the mutations is interpreted in terms of the genomic organization of the BTK gene and the disease course in individual patients. Several examples are found in which the same mutation occurs in unrelated patients, and one of these mutations occurs at the same codon that is substituted in the murine form of BTK, resulting in X chromosome-linked immunodeficiency disease. Considerable variation in presentation and disease course in X chromosome-linked agammaglobulinemia appears associated with the nature and position of different missense mutations.
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PMID:Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. 809 Jul 69


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