272 results on '"Michael T. Geraghty"'
Search Results
252. Examining the genotype–phenotype relationship for patients with very-long-chain acyl CoA dehydrogenase deficiency
- Author
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Kylie Tingley, Michael T. Geraghty, Beth K. Potter, Julian Little, and Lindsey Sikora
- Subjects
Clinical Biochemistry ,General Medicine ,Biology ,Molecular biology ,Genotype phenotype ,Very Long-Chain Acyl-CoA Dehydrogenase Deficiency - Published
- 2014
253. Incorporating the measurement of EDTA in dried blood spots (DBS) by tandem mass spectrometry in routine newborn screening
- Author
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Svetlana Ogrel, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Lawrence Fisher, Nathan McIntosh, and Michael T. Geraghty
- Subjects
Newborn screening ,Chromatography ,Spots ,Chemistry ,Clinical Biochemistry ,General Medicine ,Dried blood ,Tandem mass spectrometry - Published
- 2014
254. Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada
- Author
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Lesley Turner, Monica Hernandez, John J. Mitchell, Linda Dodds, Kylie Tingley, Aneal Khan, Sarah Dyack, Bruno Maranda, Jane Gillis, Pranesh Chakraborty, Kumanan Wilson, Anne-Marie Laberge, Alicia K. J. Chan, Aizeddin A. Mhanni, Clara D.M. van Karnebeek, Beth K. Potter, Cheryl Rockman-Greenberg, Kathy N. Speechley, Yannis Trakadis, Doug Coyle, Chitra Prasad, Grant A. Mitchell, Julian Little, Jonathan B. Kronick, Murray A. Potter, Annette Feigenbaum, Komudi Siriwardena, Michael T. Geraghty, Jennifer MacKenzie, and Sylvia Stockler
- Subjects
medicine.medical_specialty ,medicine.anatomical_structure ,business.industry ,Atlas (anatomy) ,Clinical Biochemistry ,Emergency medicine ,Medicine ,General Medicine ,business - Published
- 2014
255. Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 gene
- Author
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Stephen Jay Gould, Katherine A. Sacksteder, George H. Thomas, Verayuth Praphanphoj, and Michael T. Geraghty
- Subjects
DNA, Complementary ,Endocrinology, Diabetes and Metabolism ,Saccharomyces cerevisiae ,Genes, Fungal ,Molecular Sequence Data ,Gene Expression ,Transferases (Other Substituted Phosphate Groups) ,L-Aminoadipate-Semialdehyde Dehydrogenase ,Biochemistry ,Polymerase Chain Reaction ,Fungal Proteins ,Endocrinology ,Complementary DNA ,Gene expression ,Genetics ,Humans ,Northern blot ,Amino Acid Sequence ,Cloning, Molecular ,Molecular Biology ,Gene ,In Situ Hybridization, Fluorescence ,DNA Primers ,biology ,Base Sequence ,Sequence Homology, Amino Acid ,Chromosomes, Human, Pair 11 ,Lysine ,Chromosome Mapping ,biology.organism_classification ,Molecular biology ,Aldehyde Oxidoreductases ,Molecular Weight ,Aminoadipic Semialdehyde ,Homologous recombination - Abstract
In mammals, L-lysine is first catabolized to alpha-aminoadipate semialdehyde by the bifunctional enzyme alpha-aminoadipate semialdehyde synthase (AASS), followed by a conversion to alpha-aminoadipate by alpha-aminoadipate semialdehyde dehydrogenase. In Saccharomyces cerevisiae, which synthesize rather than degrade lysine, the latter activity requires two distinct genes. LYS2 encodes the alpha-aminoadipate reductase activity, while LYS5 encodes a phosphopantetheinyl transferase activity that is required to activate Lys2p. We have identified a full-length human cDNA homologous to the yeast LYS5 gene. The cDNA contains an open-reading frame of 930 bp predicted to encode 309 amino acids, and the human protein is 26% identical and 44% similar to its yeast counterpart. In Northern blot analysis the cDNA hybridizes to a single transcript of approximately 3 kb in all tissues except testis, where there is an additional transcript of 1.5 kb. Expression is highest in brain followed by heart and skeletal muscle, and to a lesser extent in liver. We further identified three human genomic BAC clones containing the human gene. Fluorescence in situ hybridization (FISH) analysis using the BAC clones mapped the gene to chromosome 11q22 while alignment of the cDNA and genomic sequences allowed partial identification of the intron-exon boundaries. Finally, using one-step homologous recombination in S. cerevisiae we generated a lys5 knockout strain. Complementation studies in the yeast knockout demonstrate that the human homolog encodes alpha-aminoadipate dehydrogenase phosphopantetheinyl transferase activity. We hypothesize that defects in this gene may result in pipecolic acidemia.
- Published
- 2001
256. Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome
- Author
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Barbara K. Goodman, Michael T. Geraghty, W. W. Lin, George H. Thomas, Julie Rutberg, and A. E. Pulver
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Proline ,Chromosomes, Human, Pair 22 ,Hyperprolinaemia ,Biology ,Long arm ,Genetics ,medicine ,Proline Oxidase ,Humans ,In patient ,Child ,Amino Acid Metabolism, Inborn Errors ,Genetics (clinical) ,Infant, Newborn ,Infant ,Syndrome ,Infant newborn ,Child, Preschool ,Female ,Chromosome Deletion ,Biomarkers - Published
- 2001
257. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
- Author
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Salvatore DiMauro, H.-H. M. Dahl, David R. Thorburn, S. Shanske, Michael T. Geraghty, Sarah L. White, James McGill, and H. Mountain
- Subjects
Mitochondrial DNA ,Aging ,Mutant ,Biology ,medicine.disease_cause ,DNA, Mitochondrial ,Polymerase Chain Reaction ,law.invention ,Cell Line ,chemistry.chemical_compound ,law ,Genetics ,medicine ,Humans ,Genetics (clinical) ,Polymerase chain reaction ,Mutation ,Nucleotides ,Point mutation ,DNA ,Molecular biology ,Phenotype ,Human genetics ,Pedigree ,chemistry ,Organ Specificity ,Electrophoresis, Polyacrylamide Gel - Abstract
Two pathogenic mitochondrial DNA mutations, a T-to-G substitution (8993T > G) and a T-to-C substitution (8993T > C), at nucleotide 8993 have been reported. We describe 13 pedigrees with mitochondrial DNA mutations at nucleotide 8993; 10 pedigrees with the 8993T > G mutation and three with the 8993T > C mutation. Prenatal diagnosis of the nucleotide 8993 mutations is technically possible. However, there are three major concerns: (i) that there is variation in mutant loads among tissues; (ii) that the mutant load in a tissue may change over time; and (iii) that the genotype-phenotype correlation is not clearly understood. We have used the 13 pedigrees to determine specifically the extent of tissue- and age-related variation of the two mutations at nucleotide 8993 in the mitochondrial DNA. The tissue variation was investigated by analysing two or more different tissues from a total of 18 individuals. The age-related variation of the mutation was investigated by comparing the amount of both mutations in blood taken at birth and at a later age. No substantial tissue variation was found, nor was there any substantial change in the proportion of either mutation over periods of 8-23 years in the four individuals studied. In addition, we noted that two features were remarkably common in families with nucleotide 8993 mutations, namely (i) unexplained infant death (8 cases in 13 pedigrees), and (ii) de novo mutations (5 of the 10 8993T > G pedigrees).
- Published
- 1999
258. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome
- Author
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Hugh Calkins, Patrick Tong, Irene H. Maumenee, Peter C. Rowe, Michael T. Geraghty, and Diana F. Barron
- Subjects
Adult ,Male ,medicine.medical_specialty ,Systemic disease ,Adolescent ,Orthostatic intolerance ,Hemodynamics ,Connective tissue ,Blood Pressure ,Orthostatic vital signs ,Hypotension, Orthostatic ,Heart Rate ,Internal medicine ,medicine ,Chronic fatigue syndrome ,Humans ,Child ,Fatigue Syndrome, Chronic ,business.industry ,medicine.disease ,Surgery ,Postural tachycardia ,medicine.anatomical_structure ,Ehlers–Danlos syndrome ,Pediatrics, Perinatology and Child Health ,Cardiology ,Ehlers-Danlos Syndrome ,Female ,business - Abstract
Objective: To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos syndrome (EDS) and orthostatic intolerance. Study design: Case series of adolescents referred to a tertiary clinic for the evaluation of CFS. All subjects had 2-dimensional echocardiography, tests of orthostatic tolerance, and examinations by both a geneticist and an ophthalmologist. Results: Twelve patients (11 female), median age 15.5 years, met diagnostic criteria for CFS and EDS, and all had either postural tachycardia or neurally mediated hypotension in response to orthostatic stress. Six had classical-type EDS and 6 had hypermobile-type EDS. Conclusions: Among patients with CFS and orthostatic intolerance, a subset also has EDS. We propose that the occurrence of these syndromes together can be attributed to the abnormal connective tissue in dependent blood vessels of those with EDS, which permits veins to distend excessively in response to ordinary hydrostatic pressures. This in turn leads to increased venous pooling and its hemodynamic and symptomatic consequences. These observations suggest that a careful search for hypermobility and connective tissue abnormalities should be part of the evaluation of patients with CFS and orthostatic intolerance syndromes. (J Pediatr 1999;135:494-9)
- Published
- 1999
259. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
- Author
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Corrado Romano, Richard C. Trembath, Elaine H. Zackai, Charis Eng, Michael J. Bennett, Carol A. Crowe, John Tolmie, Katherine L. Nathanson, Teresa M. Dunn, David K. Manchester, Majed Dasouki, Robert J. Gorlin, Bruce R. Korf, Liang Ping Weng, Shirley Hodgson, Patricia L. M. Dahia, Robin M. Winter, Alasdair G. W. Hunter, Victoria Murday, Jennifer B. Kum, John M. Graham, S Faisal Ahmed, Kathryn L. Lunetta, Roberto T. Zori, Howard Feit, Joann Bodurtha, Michael T. Geraghty, Susan Miesfeldt, Deborah J. Marsh, Melissa A. Parisi, Mary Curtis, and Barbara R. Pober
- Subjects
Genetic Markers ,Male ,Heterozygote ,Tumor suppressor gene ,Genotype ,medicine.disease_cause ,Cohort Studies ,Craniofacial Abnormalities ,Bannayan–Riley–Ruvalcaba syndrome ,Germline mutation ,Intellectual Disability ,Genetics ,medicine ,PTEN ,Humans ,Abnormalities, Multiple ,Molecular Biology ,Genetics (clinical) ,Cells, Cultured ,Germ-Line Mutation ,Family Health ,Mutation ,Mutation Spectra ,biology ,Chromosomes, Human, Pair 10 ,Genetic Carrier Screening ,Tumor Suppressor Proteins ,Macrocephaly ,PTEN Phosphohydrolase ,Chromosome Mapping ,General Medicine ,Cowden syndrome ,Syndrome ,medicine.disease ,Phosphoric Monoester Hydrolases ,Pedigree ,Phenotype ,biology.protein ,Cancer research ,Female ,medicine.symptom ,Chromosome Deletion ,Hamartoma Syndrome, Multiple - Abstract
Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway. CS is characterized by multiple hamartomas and an increased risk of benign and malignant disease of the breast, thyroid and central nervous system, whilst the presence of cancer has not been formally documented in BRR. The partial clinical overlap in these two syndromes is exemplified by the hallmark features of BRR: macrocephaly and multiple lipomas, the latter of which occur in a minority of individuals with CS. Additional features observed in BRR, which may also occur in a minority of CS patients, include Hashimoto's thyroiditis, vascular malformations and mental retardation. Pigmented macules of the glans penis, delayed motor development and neonatal or infant onset are noted only in BRR. In this study, constitutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations. Mutations were identified in 26 of 43 (60%) BRR cases. Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024). Additionally, the presence of lipomas was correlated with the presence of PTEN mutation in BRR patients ( P = 0.028). In contrast to a prior report, no significant difference in mutation status was found in familial versus sporadic cases of BRR ( P = 0.113). Comparisons between BRR and a previously studied group of 37 CS families suggested an increased likelihood of identifying a germline PTEN mutation in families with either CS alone or both CS and BRR when compared with BRR alone ( P = 0.002). Among CS, BRR and BRR/CS overlap families that are PTEN mutation positive, the mutation spectra appear similar. Thus, PTEN mutation-positive CS and BRR may be different presentations of a single syndrome and, hence, both should receive equal attention with respect to cancer surveillance.
- Published
- 1999
260. Identification of peroxisomal acyl-CoA thioesterases in yeast and humans
- Author
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Stephen Jay Gould, Michael T. Geraghty, Jacob M. Jones, Ralf Erdmann, and Katja Nau
- Subjects
Green Fluorescent Proteins ,Molecular Sequence Data ,Saccharomyces cerevisiae ,Biochemistry ,Microbodies ,Gene Expression Regulation, Enzymologic ,chemistry.chemical_compound ,Acyl-CoA ,Open Reading Frames ,Thioesterase ,Consensus Sequence ,Humans ,Amino Acid Sequence ,RNA, Messenger ,DNA, Fungal ,Fluorescent Antibody Technique, Indirect ,Molecular Biology ,Beta oxidation ,Peroxisomal targeting signal ,Fatty acid metabolism ,biology ,Base Sequence ,Cell Biology ,Peroxisome ,Yeast ,Fatty acid synthase ,Luminescent Proteins ,chemistry ,Microscopy, Fluorescence ,Palmitoyl-CoA Hydrolase ,biology.protein ,Thiolester Hydrolases ,Sequence Alignment ,Oleic Acid - Abstract
A computer-based screen of the Saccharomyces cerevisiae genome identified YJR019C as a candidate oleate-induced gene. YJR019C mRNA levels were increased significantly during growth on fatty acids, suggesting that it may play a role in fatty acid metabolism. The YJR019C product is highly similar to tesB, a bacterial acyl-CoA thioesterase, and carries a tripeptide sequence, alanine-lysine-phenylalanineCOOH, that closely resembles the consensus sequence for type-1 peroxisomal targeting signals. YJR019C directed green fluorescence protein to peroxisomes, and biochemical studies revealed that YJR019C is an abundant component of purified yeast peroxisomes. Disruption of the YJR019C gene caused a significant decrease in total cellular thioesterase activity, and recombinant YJR019C was found to exhibit intrinsic acyl-CoA thioesterase activity of 6 units/mg. YJR019C also shared significant sequence similarity with hTE, a human thioesterase that was previously identified because of its interaction with human immunodeficiency virus-Nef in the yeast two-hybrid assay. We report here that hTE is also a peroxisomal protein, demonstrating that thioesterase activity is a conserved feature of peroxisomes. We propose that YJR019C and hTE be renamed as yeast and human PTE1 to reflect the fact that they encode peroxisomal thioesterases. The physical segregation of yeast and human PTE1 from the cytosolic fatty acid synthase suggests that these enzymes are unlikely to play a role in formation of fatty acids. Instead, the observation that PTE1 contributes to growth on fatty acids implicates this thioesterase in fatty acid oxidation.
- Published
- 1999
261. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome
- Author
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Joyce C. Harper, N Flanagan, Michael T. Geraghty, R Watson, L Kyne, Ethylin Wang Jabs, Simeon A. Boyadjiev, and M Earley
- Subjects
musculoskeletal diseases ,Male ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Hyperkeratosis ,Anal Canal ,Genes, Recessive ,Craniosynostosis ,Nuclear Family ,Craniosynostoses ,Internal medicine ,Genetics ,medicine ,Humans ,Abnormalities, Multiple ,Genetics (clinical) ,X-linked recessive inheritance ,Coronal craniosynostosis ,business.industry ,Fibroblast growth factor receptor 1 ,Infant, Newborn ,Dysostosis ,Infant ,Syndrome ,Anal canal ,medicine.disease ,Dermatology ,Receptors, Fibroblast Growth Factor ,Pedigree ,Porokeratosis ,medicine.anatomical_structure ,Endocrinology ,Mutation ,business ,Research Article - Abstract
We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies or both have been reported in a number of syndromes associated with craniosynostosis, including Crouzon, Pfeiffer, Apert, and Beare-Stevenson syndromes. These syndromes are associated with mutations in the fibroblast growth factor receptor genes FGFR1, FGFR2, and FGFR3. They are inherited in an autosomal dominant fashion. In contrast, the cases we report do not carry any of the common FGFR mutations and the pedigree suggests autosomal or X linked recessive inheritance.
- Published
- 1998
262. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins
- Author
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Gerald G. Johnson, Ann B. Moser, Siqun Zheng, Martina C. McGuinness, Paul A. Watkins, Michael T. Geraghty, Lelita T. Braiterman, and Kirby D. Smith
- Subjects
Male ,endocrine system ,congenital, hereditary, and neonatal diseases and abnormalities ,X Chromosome ,endocrine system diseases ,Peroxisomal Biogenesis Factor 2 ,ATP-binding cassette transporter ,Biology ,ATP Binding Cassette Transporter, Subfamily D, Member 1 ,Microbodies ,ABCD3 ,Genetics ,Humans ,Adrenoleukodystrophy ,Molecular Biology ,Peroxisomal targeting signal ,Integral membrane protein ,Genetics (clinical) ,Cells, Cultured ,Fatty Acids ,Genetic Complementation Test ,nutritional and metabolic diseases ,Membrane Proteins ,General Medicine ,Peroxisome ,Fibroblasts ,Cosmids ,Transmembrane protein ,Biochemistry ,Membrane protein ,biology.protein ,ATP-Binding Cassette Transporters ,Oxidation-Reduction - Abstract
X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by reduced peroxisomal very long chain fatty acid (VLCFA) beta-oxidation. The X - ALD gene product (ALDP) is a peroxisomal transmembrane protein with an ATP binding cassette (ABC). ALDP and three other ABC proteins (PMP70, ALDR, P70R) localize to the peroxisomal membrane. The function of this family of peroxisomal membrane proteins is unknown. We used complementation studies to begin analysis of their role in VLCFA beta-oxidation and on the peroxisomal membrane. Expression of either ALDP or PMP70 restores VLCFA beta-oxidation in X-ALD fibroblasts, indicating overlapping functions. Their expression also restores peroxisome biogenesis in cells that are deficient in the peroxisomal membrane protein Pex2p. Thus it is likely that complex protein interactions are involved in the function and biogenesis of peroxisomal membranes that may contribute to disease heterogeneity.
- Published
- 1998
263. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria
- Author
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Stephen R. Dlouhy, Sakku Bai Naidu, Michael T. Geraghty, and Marion E. Hodes
- Subjects
Male ,Ornithine ,Pathology ,medicine.medical_specialty ,Pediatrics ,Proteolipid protein 1 ,X Chromosome ,Genetic Linkage ,Neurological disorder ,Kidney ,Central nervous system disease ,Degenerative disease ,Genetics ,Spastic ,medicine ,Humans ,Family history ,Deoxyribonucleases, Type II Site-Specific ,Myelin Proteolipid Protein ,Genetics (clinical) ,business.industry ,Spastic Paraplegia, Hereditary ,Lysine ,Pelizaeus–Merzbacher disease ,Brain ,Diffuse Cerebral Sclerosis of Schilder ,DNA ,medicine.disease ,Magnetic Resonance Imaging ,Pedigree ,Child, Preschool ,Mutation ,Paraplegia ,business - Abstract
A 3.5-year-old boy had intact cognition, delayed walking, progressive spastic paraparesis and congenital nystagmus. The mother denied family history of any neurological disorders, so an extensive work-up was begun. Lysinuria, increased signal on cerebral T2-weighted MRI imaging and the rumpshaker mutation (Ile186Thr) in his proteolipid protein gene, PLP, were found. When faced with these facts, the mother admitted that she was related to the family reported by Johnston and McKusick in 1962 and Kobayashi in 1994, in whom this mutation has been reported. This is the first report of an abnormal MRI scan in this family.
- Published
- 1998
264. The isolation of cDNAs from OATL1 at Xp 11.2 using a 480-kb YAC
- Author
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David Valle, Michael Marble, Hans Lehrach, Peter L. Pearson, Laura Martin, Lawrence C. Brody, William G. Kearns, Anthony P. Monaco, and Michael T. Geraghty
- Subjects
Genetics ,Expressed sequence tag ,Candidate gene ,X Chromosome ,Ornithine-Oxo-Acid Transaminase ,Transcription, Genetic ,Genome, Human ,cDNA library ,DNA ,Biology ,Molecular biology ,Open Reading Frames ,Open reading frame ,Genes ,Gene mapping ,Complementary DNA ,Humans ,Genomic library ,RNA, Messenger ,Chromosomes, Fungal ,Gene ,Gene Library ,Repetitive Sequences, Nucleic Acid - Abstract
Using an ornithine-delta-aminotransferase (OAT) cDNA, we identified five YACs that cover two nonadjacent OAT-related loci in Xp11.2-p11.3, designated OATL1 (distal) and OATL2 (proximal). Because several retinal degenerative disorders map to this region, we used YAC2 (480 kb), which covers the most distal part of OATL1, as a probe to screen a retinal cDNA library. From 8 x 10(4) plaques screened, we isolated 13 clones. Two were OAT cDNAs. The remaining 11 were divided into eight groups by cross-hybridization. Groups 1-4 contain cDNAs that originate from single-copy X-linked genes in YAC2. Each has an open reading frame of > 500 bp and detects one or more transcripts on a Northern blot. The gene for each was sublocalized and ordered in YAC2. The cDNAs in groups 5-8 contained two or more Alu sequences, had no open reading frames, and did not detect transcripts. The cDNAs from groups 1-4 provide expressed sequence tags and identify candidate genes for the genetic disorders that map to this region.
- Published
- 1993
265. Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser
- Author
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Gerald V. Raymond, Michael T. Geraghty, J. E. Hoover-Fong, and George H. Thomas
- Subjects
Adult ,Male ,Adolescent ,Cyclohexanecarboxylic Acids ,Gabapentin ,Diagnostico diferencial ,Analyser ,Urine ,Acetates ,Genetics ,medicine ,Humans ,False Positive Reactions ,Histidine ,Amines ,Amino Acid Metabolism, Inborn Errors ,gamma-Aminobutyric Acid ,Genetics (clinical) ,chemistry.chemical_classification ,Chromatography ,Chemistry ,Amino acid ,Biochemistry ,Anticonvulsants ,Female ,Quantitative analysis (chemistry) ,medicine.drug - Published
- 2001
266. Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm
- Author
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Thomas B. Shows, Ronald G. Lafreniere, Michael T. Geraghty, Huntington F. Willard, and David Valle
- Subjects
Cloning ,Genetics ,congenital, hereditary, and neonatal diseases and abnormalities ,Autosome ,X Chromosome ,Ornithine-Oxo-Acid Transaminase ,Genetic Linkage ,Ornithine aminotransferase ,Chromosome ,Chromosome Mapping ,Chromosomal translocation ,Biology ,Hybrid Cells ,Blotting, Southern ,Mice ,Gene mapping ,Homologous chromosome ,Animals ,Humans ,Cloning, Molecular ,X chromosome ,Polymorphism, Restriction Fragment Length - Abstract
Using a panel of human/rodent somatic cell hybrids segregating human X/autosome translocations and deletions, we have refined the localization of the X-linked sequences homologous to ornithine-δ-aminotransferase (OAT), the structural locus for which ( OAT ) maps to chromosome 10. OAT-related (“-like”) ( OATL ) sequences mapped to two nonadjacent intervals: OATL1 mapped to Xp11.3–p11.23, while OATL2 mapped to Xp11.22–p11.21. X-linked OATL1 sequences polymorphic for Sca I and Stu I map to the more distal interval in Xp11.3–p11.23. These results should help guide long-range cloning and mapping studies, as well as refine the genetic linkage map in this region of the X chromosome.
- Published
- 1991
267. Molecular characterization of Saccharomyces cerevisiae Δ3,Δ2-enoyl-CoA isomerase. Vol. 273 (1998) 33184–33191
- Author
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Stephen Jay Gould, James C. Morrell, Ralf Erdmann, Kerstin Schulz, Michael T. Geraghty, Brian V. Geisbrecht, Dai Zhu, Katja Nau, and Horst Schulz
- Subjects
Biochemistry ,biology ,Chemistry ,Saccharomyces cerevisiae ,Cell Biology ,Enoyl CoA isomerase ,biology.organism_classification ,Molecular Biology - Published
- 2005
268. Ehlers-Danlos syndrome
- Author
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Peter C. Rowe, Hugh Calkins, Irene H. Maumenee, Patrick Tong, Michael T. Geraghty, and Diana F. Barron
- Subjects
medicine.medical_specialty ,business.industry ,Ehlers–Danlos syndrome ,Pediatrics, Perinatology and Child Health ,Humans ,Medicine ,Ehlers-Danlos Syndrome ,Range of Motion, Articular ,business ,medicine.disease ,Dermatology - Published
- 1999
269. Cloning, Characterization and Expression in Yeast of human cDNAs Encoding Enzymes Involved in Proline and Ornithine Metabolism. • 605
- Author
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Cassandra Obie, Michael T. Geraghty, Chien-An Andy Hu, David Valle, and Wei-Wen Lin
- Subjects
Cloning ,chemistry.chemical_classification ,Enzyme ,chemistry ,Biochemistry ,Pediatrics, Perinatology and Child Health ,Ornithine metabolism ,Proline ,Biology ,Yeast - Abstract
Cloning, Characterization and Expression in Yeast of human cDNAs Encoding Enzymes Involved in Proline and Ornithine Metabolism. • 605
- Published
- 1997
270. TYPE II HYPERPROLINEMIA: CLONING AND EXPRESSION IN YEAST OF cDNAs ENCODING HUMAN Δ1-PYRROLINE-5-CARBOXYLATE (P5C) DEHYDROGENASE AND DELINEATION OF MUTATIONS RESPONSIBLE FOR TYPE II HYPERPROLINEMIA (HP II).• 860
- Author
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Wei-Wen Lin, David Valle, Michael T. Geraghty, and Chien-An Andy Hu
- Subjects
Cloning ,Biochemistry ,Pediatrics, Perinatology and Child Health ,Hyperprolinemia ,medicine ,Dehydrogenase ,Biology ,medicine.disease ,Pyrroline-5-carboxylate ,Molecular biology ,Yeast - Abstract
TYPE II HYPERPROLINEMIA: CLONING AND EXPRESSION IN YEAST OF cDNAs ENCODING HUMAN Δ 1 -PYRROLINE-5-CARBOXYLATE (P5C) DEHYDROGENASE AND DELINEATION OF MUTATIONS RESPONSIBLE FOR TYPE II HYPERPROLINEMIA (HP II). • 860
- Published
- 1996
271. A yeast artificial chromosome (YAC) that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2
- Author
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Richard J. Sinke, M.J.M. Wilbrink, Avery A. Sandberg, B. de Leeuw, B. de Jong, Anthony P. Monaco, Michael T. Geraghty, H.A.P. Janssen, A. Geurts van Kessel, R.F. Suijkerbuijk, and A.M. Meloni
- Subjects
Yeast artificial chromosome ,Cancer Research ,Papillary renal cell carcinomas ,Breakpoint ,Genetics ,Biology ,Molecular Biology ,Molecular biology - Published
- 1994
272. Hyperglycemic, hyperosmolar, nonketotic coma in a ketosis-prone juvenile diabetic
- Author
-
Myron Lotz and Michael T. Geraghty
- Subjects
Coma ,Adult ,Diabetic ketoacidosis ,business.industry ,Osmolar Concentration ,food and beverages ,General Medicine ,Ketones ,medicine.disease ,Diabetic Ketoacidosis ,Diabetes Mellitus, Type 1 ,Diabetes mellitus ,Anesthesia ,Hyperglycemia ,Internal Medicine ,Juvenile diabetic ,Medicine ,Humans ,Female ,Ketosis ,medicine.symptom ,business ,Hyperglycemic Hyperosmolar Nonketotic Coma ,Diabetic Coma - Abstract
A 24-year-old juvenile diabetic with many episodes of diabetic ketoacidosis presented with hyperglycemic, hyperosmolar, nonketotic coma that progressed rapidly to death despite vigorous co...
- Published
- 1968
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