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At least 127 records · Page 7Linked to original sources
PubMed2006

Expanded genome scan in extended families with age-related macular degeneration.

PURPOSE: To investigate further the genetic contribution to age-related macular degeneration (AMD), increasing the power of a previous analysis and reproducing the original findings. METHODS: A large cohort of families with this condition was assembled, and an expanded genome scan was performed with 556 microsatellite markers. In 2003, the results were reported of a genome-wide linkage analysis of 70 of these pedigrees. Members of 51 new families have now been ascertained and many of the original pedigrees expanded. Parametric and nonparametric linkage analyses were performed with a denser map of markers. In addition, analyses were performed with the sample stratified by age at ascertainment and by two major advanced phenotypes for the disease: neovascular AMD (choroidal neovascularization) and geographic atrophy. RESULTS: The results corroborate the macular degeneration-susceptibility loci consistently reported by the authors and others in genome-wide scans. New loci were identified, including the finding of a two-point HLOD of 3.70 at 6q25.2. CONCLUSIONS: The results suggest that the use of families enriched in predisposition to AMD has legitimacy. Genetic analyses of a genome-wide scan performed on our large cohort of families add further confirmatory evidence that susceptibility loci lie on 1q, 3p, 9q, and 10q. Furthermore, new loci have been identified, including a locus on 6q.

Aged↗
PubMed1978

Use of the extended family in the treatment of multiple personality.

The author describes a patient with the diagnosis of multiple personality who was treated by several therapists with different theoretical perspectives, including psychoanalysis and family systems theory. The latter approaches to the patient's illness are compared, a new methodology of treatment is reported, and the impact of different ways of thinking about the patient is discussed.

Adolescent↗
PubMed2002

Grandparents in law: investigating the institutionalization of extended family roles.

Previous research on grandparents has focused on the individual and familial level and has characterized grandparent roles as ambiguous and contingent. Emphasizing instead structural phenomena, this theoretical paper argues that grandmother and grandfather roles are being institutionalized through state and federal legislation. This phenomenon provides an opportunity to investigate the process of institutionalization as it happens. Grandparenthood is evaluated as a potential site for institutionalization and law as a source of institutionalization is discussed. Preliminary evidence of the legal institutionalization of grandparenthood is presented and implications and directions for further research are suggested.

Adolescent↗
PubMed1992

Keratinocyte transglutaminase: differentiation marker and member of an extended family.

Transglutaminases stabilize a variety of biological structures by cross-linking constituent proteins. This action appears physiologically important in stabilizing (1) keratinocyte cornified envelopes, (2) fibrin clots, (3) the copulation plug in rodents, and (4) the fertilized egg surface in aquatic species. Several transglutaminases that participate in such processes have been well characterized and found, though highly divergent, to differ in sequence primarily at the amino terminus. Comparison of their gene structures suggests a likely mechanism by which new members may arise that assume a diversity of functions. The functions of some members of this family are presently unknown, including the tissue transglutaminase found in many mammalian cell types, and those found in plants. Most of the transglutaminases identified are soluble enzymes, but several that are membrane-bound have gained recognition recently. The best characterized of the latter is keratinocyte transglutaminase, which is anchored in the membrane by acylated fatty acid. Important for proper epidermal cell maturation, expression of this enzyme is greatly altered by physiological effectors and toxic agents. In addition, it is induced by cultivation of cells from non-squamous epithelia. Thus, it is a promising marker for helping to elucidate the molecular basis by which keratinocyte differentiation is elicited or altered.

Amino Acid Sequence↗
PubMed1992

Likelihoods of multilocus DNA fingerprints in extended families.

A concept for the application of complex pedigree analysis to multilocus DNA fingerprinting is described. By following this approach, the extent to which the DNA fingerprints of grandparents influence the phenotype likelihoods of their offspring was determined. It was demonstrated by simulation that approximately 90% of paternity disputes can be solved if mother, child, and paternal grandparents, instead of the putative father, are tested. If only phenotype information on a single paternal sib is allowed for, true paternity will be detected with reasonable persuasive power in up to 64% of cases. Exclusion of false paternity remains possible for 40% of cases. Finally, the analysis concept is modified by reducing the number of genotype variations considered in likelihood computations. This time-saving procedure is shown to yield sufficiently accurate likelihoods in the analysis of both simulation data and multilocus DNA fingerprints obtained in two large families.

DNA Fingerprinting↗
PubMedDate not supplied

Mouse Ly-6 proteins and their extended family: markers of cell differentiation and regulators of cell signaling.

The Ly-6 locus on mouse chromosome 15 encodes a family of 10-12 kDa proteins that are linked to the cell surface by a glycosylphosphatidyl-inositol anchor and have cell signaling and cell adhesion properties. Expression of Ly-6 proteins is tightly regulated during development; these proteins continue to serve as excellent differentiation surface markers on normal and abnormal cells, but their role in driving cellular differentiation is still emerging. Recent studies suggest that Ly-6 gene products participate in regulating signaling through other cell type-specific receptors, perhaps by virtue of these proteins being localized in lipid rafts that play a key role in relaying signals from the membrane to the nucleus. Ligands for some Ly-6 proteins have been reported; the consequence of their interactions with the Ly-6 receptor remains to be fully uncovered. Mouse Ly-6-like proteins have also been reported from a variety of life forms ranging from Caenorhabditis elegans to humans that show a limited amino acid identity and share structural features with members of mouse Ly-6. Despite these similarities, the non-murine Ly-6 proteins bind distinct ligands and appear to have different cellular functions. All members of the Ly-6 super gene family perhaps evolved from an ancestral gene by a gene duplication mechanism.

Animals↗
PubMed2006

Clinical and molecular characterization of an extended family with Fabry disease.

OBJECTIVE: To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of alpha-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a Pichia pastoris expression system. RESULTS: Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein. CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.

Adolescent↗
PubMed1990

[Tuberculosis--a small-scale epidemic in a Turkish extended family].

In a Turkish joint family including 15 family members seven persons suffered from pulmonary tuberculosis within a period of five months, namely, three adults and four children. Pulmonary tuberculosis also occurred in a boy from the neighbourhood. This infection chain originated from a girl of nineteen years of age.

Adolescent↗
PubMed1989

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth (CMT) disease is an autosomal dominant peripheral neuropathy. In some CMT families linkage has been reported with either the Duffy blood group or the APOA2 gene, both located on chromosome 1q. More recently, linkage has been found in six CMT families with two chromosome 17p markers. We extensively analyzed a multi-generation Charcot-Marie-Tooth family by using molecular genetic techniques in order to localize the CMT gene defect. First, we constructed a continuous linkage group of 11 chromosome 1 markers and definitely excluded chromosome 1 as the site of mutation. Second, we analyzed the family for linkage with chromosome 17. The two-point lod scores obtained with D17S58 and D17S71 proved that this Charcot-Marie-Tooth family is linked to chromosome 17. Moreover, multipoint linkage results indicated that the mutation is most likely located on the chromosome 17p arm, distal of D17S71.

Charcot-Marie-Tooth Disease↗