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Biomedical subjects

K Worley

Publications and source records attributed to K Worley.

10 recordsLinked to original sources
PubMed2004

Population genetic structure of North American thinhorn sheep (Ovis dalli).

The thinhorn sheep (Ovis dalli ssp.) provides a rare example of a North American large mammal that occupies most of its native range and maintains close to ancestral population size. There are currently two recognized subspecies, Dall's sheep (O. d. dalli) and Stone's sheep (O. d. stonei), the validity of which remains uncertain. We investigated the spatial genetic structure of thinhorn sheep populations representing both subspecies by genotyping individuals (n = 919) from across the species range at 12 variable microsatellite loci. We found high levels of genetic diversity within (HE = 0.722) and significant genetic structure among the 24 sampled areas (FST = 0.160). Genetic distance measures and Bayesian clustering analyses revealed the presence of at least eight subpopulations that are delineated by mountain range topology. A strong overall pattern of isolation-by-distance is evident across the sampling range (r = 0.75, P < 0.001) suggesting limited dispersal and extensive philopatry. Partial Mantel tests of this relationship showed mountain range distinctions represent significant barriers to gene flow (P = 0.0001), supporting the Bayesian analyses. Genetic structure was more strongly pronounced in southern Yukon and Alaska than elsewhere. We also show evidence for genetic differences between the two currently recognized thinhorn subspecies.

Alaska↗
PubMed2000

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Glycerol kinase deficiency has three distinct forms: an isolated form which may be benign or symptomatic, and a complex form which is symptomatic and part of an Xp21 contiguous gene syndrome. Here we report the case of a male with benign isolated glycerol kinase deficiency who was incidentally identified after observation of pseudohypertriglyceridemia. DNA sequencing of this subject's glycerol kinase gene showed the insertion of an AluY sequence in intron 4 of the glycerol kinase gene. Although Alu insertions have been implicated in other diseases, and a closely related AluY element is found as an insert in the C1 inhibitor gene in patients with hereditary angioedema, this is the first case of glycerol kinase deficiency caused by an Alu insertion.

Adult↗
PubMed2000

The human transcript database: a catalogue of full length cDNA inserts.

SUMMARY: Full length cDNA sequences are an important resource for the research community but are currently intermingled with other sequences. We have identified the human full length insert cDNA sequences in GenBank and placed them in a single location, the Human Transcript Database. AVAILIBILITY: The Human Transcript Database is available at http://www.hgsc.bcm.tms.edu/HTDB/. CONTACT: John Bouck: jbouck@bcm.tmc.edu

DNA Transposable Elements↗
PubMed1995

Speaking of difficult choices: the creation of a drama and dialogue group on end-of-life choices.

The purpose of this project is to relieve the emotional isolation of elders concerned about the manner in which they will die, particularly fears about loss of control. A counselor engaged elders in dialogue exploring nonthreatening ways this could be done. Drama that includes dialogue with the audience was chosen, developed, and performed at their retirement facility and in the wider community. Elders who attend these performances express gratitude and relief at learning they are not alone in their concerns, and for the information about current laws and resources for support.

Aged↗
PubMed1994

Susceptibility to social influence in adults with Asperger's syndrome: a research note.

Asch's line judgement task was used to compare the susceptibility to social influence of adults with Asperger's syndrome with that of two groups of controls one of which was matched on verbal IQ. There was no overall difference between the three groups' mean rate of conformity but in contrast to both groups of controls, the subjects with Asperger's syndrome were significantly more likely to adopt a consistently conforming or nonconforming strategy. There were also significant differences between the groups in their interaction with the other participants. The implications of the findings are discussed in the context of current theories of autistic social dysfunction.

Adult↗
PubMed1993

Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.

Rapid genomic scanning methods are required to identify expressed sequences and we report an efficient, sensitive and specific approach which relies upon hybridization of an amplified, labeled cDNA library to digested cosmid DNA. We identified expressed sequences within a cosmid in the glycerol kinase (GK) "critical region" of Xp21 that had impressive similarity to prokaryotic GKs. We used this genomic sequence information to clone the human hepatic GK cDNA. Independent confirmation of the identity of this gene was obtained by functional complementation of GK deficient E. coli mutants with a construct containing the complete human X-linked GK coding sequence.

Amino Acid Sequence↗
PubMed1992

Primary immunodeficiencies.

Primary immunodeficiencies are rare immune system disorders that present with recurrent and chronic infections of the head and neck. Otitis media, sinusitis, and upper respiratory tract infections develop frequently and present in early childhood. The purpose of this report is to classify and define the primary immunodeficiencies as well as to examine the clinical manifestations, evaluation, and treatment of these disorders.

Diagnosis, Differential↗
PubMed1991

Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane.

Porin is the pore-forming protein involved in the movement of adenine nucleotides across the outer mitochondrial membrane (OMM). Hexokinase and glycerol kinase interact with porin on the outer surface of the OMM in a manner which provides these enzymes with preferred access to the ATP generated in the mitochondrion. We review recent evidence which permits refinement of our knowledge of these proteins and their interactions at the OMM. The involvement of this system in metabolic microcompartmentation is discussed, as well as possible pathological consequences of its disruption in malignancy and genetic deficiencies of hexokinase, glycerol kinase, and porin.

Adenine Nucleotides↗