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Second Family (second + family)
Selected AbstractsGenomic and Proteomic Evidence for a Second Family of Dense Core Granule Cargo Proteins in Tetrahymena thermophilaTHE JOURNAL OF EUKARYOTIC MICROBIOLOGY, Issue 4 2005GRANT R. BOWMAN Abstract. In addition to a family of structurally related proteins encoded by the Granule lattice (GRL) genes, the dense core granules in Tetrahymena thermophila contain a second, more heterogeneous family of proteins that can be defined by the presence of a domain homologous to ,/,-crystallins. The founding members of the family, Induced during Granule Regeneration 1 (IGR1) and Granule Tip 1 (GRT1), were identified in previous screens for granule components. Analysis of the recently sequenced T. thermophila macronuclear genome has now uncovered 11 additional related genes. All family members have a single ,/,-crystallin domain, but the overall predicted organization of family members is highly variable, and includes three other motifs that are conserved between subsets of family members. To demonstrate that these proteins are present within granules, polypeptides from a subcellular fraction enriched in granules were analyzed by mass spectrometry. This positively identified four of the predicted novel ,/,-crystallin domain proteins. Both the functional evidence for IGR1 and GRT1 and the variability in the overall structure of this new protein family suggest that its members play roles that are distinct from those of the GRL family. [source] The Last Will and Testament in Literature: Rupture, Rivalry, and Sometimes Rapprochement from Middlemarch to Lemony SnicketFAMILY PROCESS, Issue 4 2008ELIZABETH STONE Although the psychological literature on the last will and testament is sparse, authors of fiction and memoir have filled the gap, writing in rich detail about the impact of wills on families. Henry James, George Eliot, J. R. Ackerley, and others reveal that a will is not only a legal document but a microcosm of family life: a coded and nonnegotiable message from the will's writer to its intended readers, the heirs, delivered at a stressful time and driving home the truth that options for discussion between testator and heirs are now gone, all factors which may intensify the ambivalence of grief and stall its resolution. Among the problems the authors chronicle: reinvigorated sibling rivalries, vindictive testators, and the revelation of traumatic family secrets. Writers also demonstrate how contemporary social factors, such as divorce, second families, and geographic distance between family members, may complicate wills and ensuing family relations. Exemplary wills, or will-like documents, appear in fiction by Maria Katzenbach and Marilynne Robinson, allowing the living to make rapprochements with the dead, and pointing to testamentary strategies clinicians might develop to lead to a resolution of grief. The depth of these writers' accounts allows clinicians to imagine points at which they might productively intervene in matters pertaining to a will. RESUMEN Aunque la literatura psicológica sobre la última voluntad y el testamento es escasa, los autores de ficción y de memorias han llenado ese vación, escribiendo en rico detalle sobre el impacto de los testamentos en las familias. Henry James, George Eliot, J.R. Ackerley y otros, revelan que un testamento no es sólo un documento legal, sino un microcosmos de vida familiar: un mensaje codificado y no negociable de la voluntad de quien lo escribe a sus destinatarios, los herederos, enviado en un momento estresante y haciendo obvio el hecho de que las posibilidades de discutir entre el emisor y sus herederos ya no existen. Todos estos factores pueden aumentar la ambivalencia de la pena y demorar su resolución. Entre todos los problemas, los autores relatan: aumento de la rivalidad entre hermanos, testamentos vengativos, y la revelación de secretos de familia traumáticos. Los autores también demuestran cómo los factores sociales contemporáneos, como el divorcio, segundas familias y la distancia geográfica entre miembros de la familia, pueden complicar los testamentos y las relaciones familiares posteriores. Testamentos ejemplarizantes, o documentos con aspecto de testamento, aparecen en los trabajos de ficción de Maria Katzenbach y Marilynne Robinson, permitiendo a los vivos acercarse a los muertos, y señalando estrategias testamentarias que los profesionales de clínica pueden desarrollar con el fin de acabar con la pena. La profundidad de los relatos de estos autores permite a los profesionales de clínica imaginarse puntos en que pueden intervenir de una forma productiva en temas relacionados con testamentos. Palabras clave: última voluntad y testamento, muerte, secretos, Henry James, George Eliot, Marilynne Robinson, J.R. Ackerley, Dorothy Gallagher, Maria Katzenbach [source] A region on equine chromosome 13 is linked to recurrent airway obstruction in horsesEQUINE VETERINARY JOURNAL, Issue 3 2007U. JOST Summary Reasons for study: Equine recurrent airway obstruction (RAO) is probably dependent on a complex interaction of genetic and environmental factors and shares many characteristic features with human asthma. Interleukin 4 receptor , chain (IL4RA) is a candidate gene because of its role in the development of human asthma, confirmation of this association is therefore required. Methods: The equine BAC clone containing the IL4RA gene was localised to ECA13q13 by the FISH method. Microsatellite markers in this region were investigated for possible association and linkage with RAO in 2 large Warmblood halfsib families. Based on a history of clinical signs (coughing, nasal discharge, abnormal breathing and poor performance), horses were classified in a horse owner assessed respiratory signs index (HOARSI 1,4: from healthy, mild, moderate to severe signs). Four microsatellite markers (AHT133, LEX041, VHL47, ASB037) were analysed in the offspring of Sire 1 (48 unaffected HOARSI 1 vs. 59 affected HOARSI 2,4) and Sire 2 (35 HOARSI 1 vs. 50 HOARSI 2,4), age ,7 years. Results: For both sires haplotypes could be established in the order AHT133-LEX047-VHL47-ASB37. The distances in this order were estimated to be 2.9, 0.9 and 2.3 centiMorgans, respectively. Haplotype association with mild to severe clinical signs of chronic lower airway disease (HOARSI 2,4) was significant in the offspring of Sire 1 (P = 0.026) but not significant for the offspring of Sire 2 (P = 0.32). Linkage analysis showed the ECA13q13 region containing IL4RA to be linked to equine chronic lower airway disease in one family (P<0.01), but not in the second family. Conclusions: This supports a genetic background for equine RAO and indicates that IL4RA is a candidate gene with possible locus heterogeneity for this disease. Potential relevance: Identification of major genes for RAO may provide a basis for breeding and individual prevention for this important disease. [source] ORIGINAL ARTICLE Laboratory science: Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiencyHAEMOPHILIA, Issue 5 2010H. E. ABDALLAH Summary., Combined factor V (FV) and factor VIII (FVIII) deficiency (F5F8D) is a rare autosomal recessive disorder caused by mutations in LMAN1 or MCFD2 genes which encode proteins that form a complex involved in the transport of FV and FVIII from the endoplasmic reticulum to Golgi apparatus. We report two novel mutations in MCFD2 gene and one recurrent mutation in LMAN1 gene that caused combined FV and FVIII deficiency in two unrelated Tunisian Muslim families. For the first family two patients were homozygous for a new missense mutation Asp81His in exon 3 of MCFD2 and heterozygous for a second new missense mutation Val100Asp in the same exon. Replacement respectively of the hydrophilic Asp residue with hydrophobic positively charged His and of the hydrophobic neutral Val residue with the Asp residue most likely disrupts the MCFD2,LMAN1 interaction, thus leading to the disease phenotype. For the second family a reported Arg202X mutation in exon 5 in the LMAN1 gene was identified in the homozygous state. [source] Serum and glucocorticoid-regulated protein kinases: Variations on a themeJOURNAL OF CELLULAR BIOCHEMISTRY, Issue 6 2006Maude Tessier Abstract The phosphatidylinositol 3, kinase (PI3K)-signaling pathway plays a critical role in a variety of cellular responses such as modulation of cell survival, glucose homeostasis, cell division, and cell growth. PI3K generates important lipid second messengers,phosphatidylinositides that are phosphorylated at the 3, position of their inositol ring head-group. These membrane restricted lipids act by binding with high affinity to specific protein domains such as the pleckstrin homology (PH) domain. Effectors of PI3K include molecules that harbor such domains such as phosphoinositide-dependent kinase (PDK1) and protein kinase B (PKB), also termed Akt. The mammalian genome encodes three different PKB genes (,, ,, and ,; Akt1, 2, and 3, respectively) and each is an attractive target for therapeutic intervention in diseases such as glioblastoma and breast cancer. A second family of three protein kinases, termed serum and glucocorticoid-regulated protein kinases (SGKs), is structurally related to the PKB family including regulation by PI3K but lack a PH domain. However, in addition to PH domains, a second class of 3, phosphorylated inositol phospholipid-binding domains exists that is termed Phox homology (PX) domain: this domain is found in one of the SGKs (SGK3). Here, we summarize knowledge of the three SGK isoforms and compare and contrast them to PKB with respect to their possible importance in cellular regulation and potential as therapeutic targets. J. Cell. Biochem. © 2006 Wiley-Liss, Inc. [source] Multicenter nature of titanium-based Ziegler,Natta catalysts: Comparison of ethylene and propylene polymerization reactionsJOURNAL OF POLYMER SCIENCE (IN TWO SECTIONS), Issue 12 2003Yury V. Kissin Abstract This article discusses the similarities and differences between active centers in propylene and ethylene polymerization reactions over the same Ti-based catalysts. These correlations were examined by comparing the polymerization kinetics of both monomers over two different Ti-based catalyst systems, ,-TiCl3 -AlEt3 and TiCl4/DBP/MgCl2 -AlEt3/PhSi(OEt)3, by comparing the molecular weight distributions of respective polymers, in consecutive ethylene/propylene and propylene/ethylene homopolymerization reactions, and by examining the IR spectra of "impact-resistant" polypropylene (a mixture of isotactic polypropylene and an ethylene/propylene copolymer). The results of these experiments indicated that Ti-based catalysts contain two families of active centers. The centers of the first family, which are relatively unstable kinetically, are capable of polymerizing and copolymerizing all olefins. This family includes from four to six populations of centers that differ in their stereospecificity, average molecular weights of polymer molecules they produce, and in the values of reactivity ratios in olefin copolymerization reactions. The centers of the second family (two populations of centers) efficiently polymerize only ethylene. They do not homopolymerize ,-olefins and, if used in ethylene/,-olefin copolymerization reactions, incorporate ,-olefin molecules very poorly. © 2003 Wiley Periodicals, Inc. J Polym Sci Part A: Polym Chem 41: 1745,1758, 2003 [source] Genetic heterogeneity in patients with pantothenate kinase,associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger patternMOVEMENT DISORDERS, Issue 2 2006Paola Valentino MD Abstract We performed a detailed molecular study in two unrelated families with pantothenate kinase,associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357. As far as we are aware, this is the first case of classic PKAN with the specific MRI eye-of-the-tiger pattern not carrying a PANK2 mutation. Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN. © 2005 Movement Disorder Society [source] Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutationsANNALS OF NEUROLOGY, Issue 1 2003Renzo Guerrini MD DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy. Affected male subjects had SBH or pachygyria-SBH. In two families, the phenotype was mild in both genders. In the first family, we found a tyr138his mutation that is predicted to result in abnormal folding in the small hinge region. In the second family, we found an arg178cys mutation at the initial portion of R2, in the putative ,-sheet structure. Carrier female subjects with normal MRI showed no somatic mosaicism or altered X-inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes. In the two other families, with severely affected boys, we found arg76ser and arg56gly mutations within the R1 region that are predicted to affect DCX folding, severely modifying its activity. Both carrier mothers showed skewed X-inactivation, possibly explaining their mild phenotypes. Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation analysis in mothers of affected children is mandatory, even when brain MRI is normal. Ann Neurol 2003 [source] The Cath Lab Crew: Your second familyCATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS, Issue 5 2006FSCAI, Gregory J. Dehmer MD First page of article [source] Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four childrenACTA PAEDIATRICA, Issue 6 2009Diemud Simm Abstract We report four children originating from two unrelated German families with congenital hypothyroidism (CH) due to mutations in the thyroid peroxidase (TPO) gene. Three female siblings (family 1) were found to be compound heterozygous for two mutations, a known mutation in exon 9 (W527C), and a mutation in exon 8 (Q446H), which has not been described before. In the second family we identified a boy with goitrous CH, who had a novel homozygous mutation in the TPO gene in exon 16 (W873X). All children of family 1 were diagnosed postnatally by newborn screening. The case of the boy of family 2 has already been reported for the in utero treatment of a goiter with hypothyroidism. Conclusion: Our results confirm existing data on the phenotypic variability of patients with TPO gene mutations. [source] Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)CLINICAL GENETICS, Issue 2 2004M Faiyaz-Ul-Haque Multiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pakistan, who display the typical features of HME. Affected individuals also show a previously unreported feature , bilateral overriding of single toes. Analysis using microsatellite markers for each of the known EXT loci, EXT1, EXT2, and EXT3 showed linkage to EXT1. In the first family, mutation analysis of the EXT1 gene revealed that affected individuals were heterozygous for an in-frame G-to-C transversion at the conserved splice donor site in intron 1. This mutation is predicted to disrupt splicing of the first intron and produce a frameshift that leads to a premature termination codon. In the second family, an insertion of an A in exon 8 is predicted to produce a frameshift at codon 555 followed by a premature termination, a further 10 codons downstream. In both families, an increased number of affected male subjects were observed. In affected females in family 2, phenotypic variability and incomplete penetrance were noted. [source] | |||||||||||||