Disease relevance of Family

• Four other family members with congestive cardiomyopathy had myocardial fibrosis at autopsy or biopsy and mean myocardial taurine levels of 9.2 +/- 2.2 mumol [1].
• The t(11;22)(q24;q12), present in 85% of Ewing's sarcoma and related tumours, fuses the EWS gene from chromosome 22q12 and the ETS family member, FLI-1 [2].
• Although all Runx family members can interact with Cbfbeta (core-binding factor b, encoded by Cbfb), a role for Cbfbeta in bone development has not been demonstrated owing to lethality in Cbfb(-/-) mouse embryos at 12.5 days post coitum (d.p.c.) from hemorrhages and lack of definitive hematopoiesis [3].
• Humans and mice deficient in Fas, a tumor necrosis factor (TNF)-receptor family member, cannot induce apoptosis of autoreactive cells, and consequently develop progressive lymphoproliferative disorders and lupus-like autoimmune diseases [4].
• Here we report that the Nijmegen breakage syndrome protein (Nbs1) and phosphorylated H2A histone family member X (gamma-H2AX, also known as gamma-H2afx), which facilitate DNA double-strand break (DSB) repair, form nuclear foci at the Ch region in the G1 phase of the cell cycle in cells undergoing CSR, and that switching is impaired in H2AX-/- mice [5].

Psychiatry related information on Family

• Toll/IL-1 receptor family members are central components of host defense mechanisms in a variety of species [6].
• A strong (although statistically nonsignificant) difference emerged that suggested at least some degree of cosegregation of ADHD and learning disabilities in family members [7].
• RESULTS: Men living in stepfamilies had-significantly higher levels of depressive symptoms before and after the birth than did men in more traditional families [8].
• Female gender, multiple major depressive disorder episodes in adolescence, higher proportion of family members with recurrent major depressive disorder, elevated borderline personality disorder symptoms, and conflict with parents (females only) independently predicted recurrent major depressive disorder [9].
• Panic disorder was diagnosed in 18% of family members with bipolar disorder [10].

High impact information on Family

• The discovery of new functions for the original B7 family members, together with the identification of additional B7 and CD28 family members, have revealed new ways in which the B7:CD28 family regulates T cell activation and tolerance [11].
• TNF/TNFR family members in costimulation of T cell responses [12].
• The effects of these costimulatory TNFR family members can often be functionally, temporally, or spatially segregated from those of CD28 and from each other [12].
• Therefore, these CIS family members seem to function in a classical negative feedback loop of cytokine signaling [13].
• In the presence of oxygen, HIFalpha family members are hydroxylated on one of two conserved prolyl residues by members of the egg-laying-defective nine (EGLN) family [14].

Chemical compound and disease context of Family

• Cyclosporin A-sensitive induction of the Epstein-Barr virus lytic switch is mediated via a novel pathway involving a MEF2 family member [15].
• When compared with these 9 asymptomatic family members, the 6 persons with protein S deficiency and a history of thrombosis tended to smoke (P = 0.01) and to have higher triglyceride levels (P = 0.001) [16].
• Conjoint high triglycerides and low HDL cholesterol across generations. Analysis of proband hypertriglyceridemia and lipid/lipoprotein disorders in first-degree family members [17].
• Endothelin-1, angiotensin II, and phenylephrine signal through Gq or Gi family members and promote the hypertrophy of cardiomyocytes [18].
• Forty-six patients with severe aplastic anemia (median age, 23 years) were treated with high-dose cyclophosphamide followed by infusion of marrow from an HLA-identical family member [19].

Biological context of Family

• Loss-of-function and gain-of-function mutants of BIM1 and its close family members display BR response phenotypes [20].
• We show here that binding sites for Runt domain transcription factors are essential for CD4 silencer function at both stages, and that different Runx family members are required to fulfill unique functions at each stage [21].
• There are seven unaffected family members who are also homozygous for the DFNB26-linked haplotype and thus are non-penetrant [22].
• To determine whether a correlation exists between the biochemical expression of hemochromatosis and the HLA genotype, we studied 174 family members of 32 persons with the disease [23].
• Sequence analyses demonstrated an Arg31Pro missense mutation in the homeodomain of MSX1 in all affected family members [24].

Anatomical context of Family

• Two of its family members, VEGF-C and VEGF-D, regulate the lymphatic endothelial cells via their receptor VEGFR-3 [25].
• 3). We detected no MMP2 enzymatic activity in the serum or fibroblasts of affected family members [26].
• We previously described a novel TGF-beta family member, myostatin (encoded by the gene Mstn, formerly Gdf8), that has an essential role in regulating skeletal muscle mass [27].
• DOCK4 therefore encodes a CDM family member that regulates intercellular junctions and is disrupted during tumorigenesis [28].
• The Rho-family GTPase, Cdc42, can regulate the actin cytoskeleton through activation of Wiskott-Aldrich syndrome protein (WASP) family members [29].

Associations of Family with chemical compounds

• To address the biological functions of the Eph family member Nuk, two mutations in the mouse germline have been generated: a protein null allele (Nuk1) and an allele that encodes a Nuk-beta gal fusion receptor lacking the tyrosine kinase and C-terminal domains (Nuk(lacZ)) [30].
• The "BH3-only" proapoptotic BCL-2 family members are sentinels of intracellular damage [31].
• CcpA is a LacI-GalR family member that employs, as an allosteric corepressor, the phosphoprotein HPr-Ser46-P, which is formed in glucose-replete conditions [32].
• We screened affected family members for mutations within CHRNA4 and found a missense mutation that replaces serine with phenylalanine at codon 248, a strongly conserved amino acid residue in the second transmembrane domain [33].
• Compared to other CPEB family members, the neuronal protein has an N-terminal extension that shares characteristics of yeast prion-determinants: a high glutamine content and predicted conformational flexibility [34].

Gene context of Family

• The results indicate how EGFR family members can bind a family of highly variable ligands [35].
• In three families, CDKN2A mutations identical to those in the probands were found in other family members [36].
• We show that FCHL is linked and associated with the gene encoding upstream transcription factor 1 (USF1) in 60 extended families with FCHL, including 721 genotyped individuals (P = 0.00002), especially in males with high triglycerides (P = 0.0000009) [37].
• A G-->C transversion was found in the splice donor site of intron 3 of the THPO gene in all affected family members [38].
• We report here that Peg3 associates specifically with TRAF2 but not with other TRAF family members [39].

Analytical, diagnostic and therapeutic context of Family

• Echocardiography, including Doppler analysis, was performed to assess the prevalence of cardiac abnormalities in 163 patients with autosomal dominant polycystic kidney disease, 130 unaffected family members, and 100 control subjects [40].
• Previous studies have shown that short-term administrations of agonistic monoclonal antibodies against CD137, another TNF-receptor family member, activate T cells and induce rejection of allografts and established tumors [4].
• We investigated the in vivo function of the B7 family member B7-H3 (also known as B7RP-2) by gene targeting [41].
• PCR amplification of exon 4 of TTR and restriction digestion with Fnu 4H I confirmed that five affected family members with increased binding of 125I-T4 to TTR are heterozygous for the threonine 109 substitution that increases the affinity of this abnormal TTR for T4 [42].
• Northern blot analysis of class I and beta 2-microglobulin messenger RNAs also revealed no qualitative difference between affected and unaffected family members [43].

References