22 results on '"Davidson HR"'
Search Results
2. COMIC II in the Automotive Industry
- Author
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Davidson Hr
- Subjects
Engineering drawing ,Color difference ,business.industry ,Computer science ,Materials Science (miscellaneous) ,ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION ,Automotive industry ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,Comics ,Metamerism (color) ,Industrial and Manufacturing Engineering ,Optics ,Business and International Management ,business ,ComputingMethodologies_COMPUTERGRAPHICS - Abstract
The new Colorant Mixture Computer (COMIC II) has been designed as a tool for use in matching and controlling color production. It does not replace a trained colorist, but frees him of routine color matching problems. Some of the theory and practice of COMIC II applications in the automotive industry are described.
- Published
- 1969
3. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
- Author
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Sebastian Kalamajski, H. Rosemarie Davidson, A. Belinda Campos-Xavier, Eugênia Ribeiro Valadares, Goranka Tanackovich, Andrea Superti-Furga, Christine Hall, Daniel H. Cohn, Massimiliano Rossi, Generoso Andria, R. Curtis Rogers, Shiro Ikegawa, Diana Ballhausen, André Mégarbané, Michael D. Briggs, Sheila Unger, David L. Rimoin, Claire L. Hartley, Rainer König, Richard H Scott, Luisa Bonafé, Ralph S. Lachman, Eric D. Boyden, John F. Bateman, Pierre-Simon Jouk, Geert Mortier, Philippe Suarez, Trevor L. Cameron, Matthew L. Warman, Hirotake Sawada, Gen Nishimura, Boyden, Ed, Campos Xavier, Ab, Kalamajski, S, Cameron, Tl, Suarez, P, Tanackovic, G, Andria, Generoso, Ballhausen, D, Briggs, Md, Hartley, C, Cohn, Dh, Davidson, Hr, Hall, C, Ikegawa, S, Jouk, P, König, R, Megarbané, A, Nishimura, G, Lachman, R, Mortier, G, Rimoin, Dl, Rogers, Rc, Rossi, M, Sawada, H, Scott, R, Unger, S, Valadares, Er, Bateman, Jf, Warman, Ml, Superti Furga, A, Bonafé, L., and Tanackovich, G
- Subjects
Male ,Joint Dislocations ,Gene Expression ,Kinesins ,Joint laxity ,Motor domain ,Mice ,0302 clinical medicine ,Missense mutation ,Exome ,Genetics(clinical) ,Growth Plate ,Child ,Cells, Cultured ,Genetics (clinical) ,Genes, Dominant ,Genetics ,0303 health sciences ,Chemistry ,Joint Laxity ,Monomeric Kinesin KIF22 ,Phenotype ,Cell biology ,DNA-Binding Proteins ,Kinesin ,Erratum ,Joint Instability ,Skeletal Dysplasia ,Mutation, Missense ,Biology ,Osteochondrodysplasias ,03 medical and health sciences ,Skeletal disorder ,Report ,medicine ,Animals ,Humans ,Abnormalities, Multiple ,Amino Acid Sequence ,Genetic Association Studies ,030304 developmental biology ,Spondyloepimetaphyseal dysplasia ,Base Sequence ,Tibia ,Sequence Analysis, DNA ,medicine.disease ,Protein Structure, Tertiary ,Dysplasia ,Human medicine ,030217 neurology & neurosurgery - Abstract
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated.
- Published
- 2011
4. Renegotiation, uncertainty, imagination: Assemblage perspectives on reproductive and family planning with an Inborn Error of immunity.
- Author
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Davidson HR, Jamal L, Mueller R, Similuk M, and Owczarzak J
- Abstract
Advances within the new genetics expand our understanding of the scope and presentation of inherited conditions, particularly to include incompletely penetrant and variably expressive conditions. These features can complicate patients' reproductive and family planning processes, in part because they expand the possibilities of life with an inherited condition. Despite many inquiries into reproductive planning with an inherited condition, accounts of experiential knowledge and reproductive planning fail to adequately describe the uncertainties experienced by people living with incompletely penetrant and variably expressive conditions. To address this gap, we conducted a qualitative, cross-sectional study using assemblage theory to characterize the impacts of experiential knowledge on reproductive planning for individuals living with Inborn Errors of Immunity (IEI) that exhibit incomplete penetrance and variable expressivity. Eligible participants were between ages 18 and 48, with a diagnosis of either GATA2 deficiency, PIK3CD gain-of-function disorder, or CTLA4 deficiency. Using an abductive thematic approach, attention was paid to the people, ideas, and non-human objects embedded within participants' accounts of disease experience and reproductive planning. Organized around the objects of genetic diagnosis, the body, and hypothetical children, this analysis illustrates how disease can be conceptualized as an assemblage of human and non-human objects which provoke numerous actions and affective engagements in reproductive planning. These engagements include renegotiation, uncertainty, and imagination. By emphasizing the distribution of agency and action across systems, processes, and relationships, assemblage theory invites novel ways of understanding the role of experiential knowledge on reproductive planning., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)
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- 2024
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5. Becoming a Rare Disease Parent: An Interpretative Phenomenological Analysis of Parent-Caregivers' Postpartum Experiences.
- Author
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Davidson HR, Gelles S, Keller KR, Zajdel M, and Koehly LM
- Subjects
- Child, Female, Humans, Parents, Grief, Qualitative Research, Caregivers, Rare Diseases
- Abstract
Rare diseases constitute a group of conditions that are individually rare, but in aggregate impact between 3 and 6% of the world population. Many of these conditions present during infancy and involve substantial caregiving responsibilities, often assessed via quantitative measurements. However, few qualitative analyses examine lived experiences of parent-caregivers during the early period of their child's life. The purpose of this study was to examine the meaning that rare disease parent-caregivers apply to the postpartum year using data collected from a semi-structured interview exploring significant experiences over the course of their affected child's life. We utilized an interpretative phenomenological analysis (IPA) approach to analyze 22 interview transcripts from caregivers to children with several inherited metabolic and mitochondrial disorders, as well as an undiagnosed disease. Our analysis yielded three superordinate themes: Reckoning With the Parent-Caregiver Role, Familial Transition, and Adaptation and Adjustment . Subordinate themes expanded upon these concepts and included distinctions between the parent and caregiving identity, communal coping and shifting of family dynamics, as well as meaning applied to child milestones, anticipatory grief, and parental perception of a new normal. Exploration of these themes in relation to existing literature, as well as future research directions for qualitative research on rare disease caregivers, is discussed. Overall, this work contributes to a growing body of literature exploring the parental experience of rare disease across several condition contexts., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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6. Eating Behavior, Stress, and Adiposity: Discordance Between Perception and Physiology.
- Author
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Joseph PV, Davidson HR, Boulineaux CM, Fourie NH, Franks AT, Abey SK, and Henderson WA
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- Adult, Cohort Studies, Cross-Sectional Studies, Female, Humans, Male, Sex Factors, Stress, Psychological, Surveys and Questionnaires, Adiposity physiology, Body Mass Index, Body Weight Maintenance physiology, Feeding Behavior psychology, Hydrocortisone blood, Obesity psychology
- Abstract
The purpose of the study was to examine the interrelationships among stress, eating behavior, and adiposity in a cohort of normal- and overweight individuals. Clinical markers of physiological stress (fasting serum cortisol) and adiposity (body mass index [BMI] and percent body fat) were obtained from participants selected for a natural history protocol ( n = 107). Self-reported data on eating behavior (using the Three-Factor Eating Questionnaire subscales such as Cognitive Restraint, Disinhibition, and Hunger) and psychological stress (via the Perceived Stress Scale) were evaluated. Demographic information was incorporated using principal component analysis, which revealed sex- and weight-based differences in stress, adiposity, and eating behavior measures. Following a cross-sectional and descriptive analysis, significant correlations were found between the Disinhibition and Hunger eating behavior subscales and measures of adiposity including BMI ( r = .30, p = .002 and r = .20, p = .036, respectively) and percent body fat ( r = .43, p = .000 and r = .22, p = .022, respectively). Relationships between stress measures and eating behavior were also evident in the analysis. Disinhibition and Hunger correlated positively with perceived stress ( r = .32, p .001 and r = .26, p = .008, respectively). However, Disinhibition varied inversely with serum cortisol levels ( r = -.25, p = .009). Future studies are warranted to better understand this paradox underlying the effects of perceived and physiological stress on eating behavior.
- Published
- 2018
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7. Colon Epithelial MicroRNA Network in Fatty Liver.
- Author
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Joseph PV, Abey SK, Wang D, Fourie NH, Kenea ND, Vishnyakova TG, Robinson JM, Weaver KR, Boulineaux CM, Davidson HR, Sherwin LB, Ozoji O, Diallo AF, Smyser PA, Patterson AP, and Henderson WA
- Subjects
- Caco-2 Cells, Colon, Electric Impedance, Epithelial Cells metabolism, Humans, Intercellular Junctions metabolism, MicroRNAs genetics, Microscopy, Confocal, Occludin metabolism, Proto-Oncogene Proteins c-akt metabolism, Transfection, Tumor Necrosis Factor-alpha metabolism, Zonula Occludens-1 Protein metabolism, Epithelial Cells physiology, Fatty Liver metabolism, Intercellular Junctions ultrastructure, Metabolic Syndrome metabolism, MicroRNAs metabolism, Signal Transduction
- Abstract
Background & Aims: Intestinal barrier alterations are associated with fatty liver (FL) and metabolic syndrome (MetS), but microRNA (miR) signaling pathways in MetS-FL pathogenesis remain unclear. This study investigates an epithelial-focused miR network in colorectal cell models based on the previously reported MetS-FL miR trio of hsa-miR-142-3p, hsa-miR-18b, and hsa-miR-890., Methods: Each miR mimic construct of MetS-FL miR trio was transfected into human colorectal cells, CRL-1790 or Caco-2. Global miRNome changes posttransfection were profiled (nCounter® Human v3 miRNA, NanoString Technologies). Changes in barrier (transepithelial electrical resistance, TEER) and epithelial cell junction structure (Occludin and Zona Occludens-1/ZO-1 immunofluorescence staining-confocal microscopy) were examined pre- and posttransfection in Caco-2 cell monolayers. A signaling network was constructed from the MetS-FL miR trio, MetS-FL miR-induced colorectal miRNome changes, ZO-1, and Occludin., Results: Transfection of CRL-1790 cells with each MetS-FL miR mimic led to global changes in the cellular miRNome profile, with 288 miRs being altered in expression by more than twofold. Eleven miRs with known cytoskeletal and metabolic roles were commonly altered in expression by all three miR mimics. Transfection of Caco-2 cell monolayers with each MetS-FL miR mimic induced barrier-associated TEER variations and led to structural modifications of ZO-1 and Occludin within epithelial cell junctions. Pathway analysis incorporating the MetS-FL miR trio, eleven common target miRs, ZO-1, and Occludin revealed a signaling network centered on TNF and AKT2, which highlights injury, inflammation, and hyperplasia., Conclusions: Colon-specific changes in epithelial barriers, cell junction structure, and a miRNome signaling network are described from functional studies of a MetS-FL miR trio signature.
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- 2018
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8. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
- Author
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Domchek SM, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, and Greenberg RA
- Subjects
- Adult, Alleles, Female, Humans, Mutation, Carcinoma, Papillary genetics, Genes, BRCA1, Ovarian Neoplasms genetics
- Abstract
Unlabelled: BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T>C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results., Significance: Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy., (©2012 AACR.)
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- 2013
- Full Text
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9. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
- Author
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Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, König R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, and Bonafé L
- Subjects
- Amino Acid Sequence, Animals, Base Sequence, Cells, Cultured, Child, DNA-Binding Proteins chemistry, DNA-Binding Proteins metabolism, Exome, Gene Expression, Genetic Association Studies, Growth Plate metabolism, Humans, Joint Dislocations genetics, Kinesins chemistry, Kinesins metabolism, Male, Mice, Protein Structure, Tertiary, Sequence Analysis, DNA, Tibia metabolism, Abnormalities, Multiple genetics, DNA-Binding Proteins genetics, Genes, Dominant, Joint Dislocations congenital, Joint Instability genetics, Kinesins genetics, Mutation, Missense, Osteochondrodysplasias genetics
- Abstract
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated., (Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2011
- Full Text
- View/download PDF
10. Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
- Author
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Yeap PM, Tobias ES, Mavraki E, Fletcher A, Bradshaw N, Freel EM, Cooke A, Murday VA, Davidson HR, Perry CG, and Lindsay RS
- Subjects
- Alleles, Chromosomes, Human, Pair 11, DNA Mutational Analysis, Female, Humans, Loss of Heterozygosity, Male, Pedigree, Adrenal Gland Neoplasms genetics, Germ-Line Mutation, Pheochromocytoma genetics, Succinate Dehydrogenase genetics
- Abstract
Context: Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect has not been fully explained but is accompanied by obligate loss of the maternal copy of chromosome 11. Loss of wild-type SDHD and an additional imprinted gene (hypothesized to be H19) appears necessary for tumor formation. Two previous reports suggested tumor formation after maternal transmission of SDHD mutation, but histological and molecular characterization was unavailable., Objective: We report the first kindred in which histologically confirmed pheochromocytoma/paraganglioma occurred after maternal transmission of an SDHD mutation and investigate the molecular mechanism of tumor formation., Design: The design of the investigation was the study of a three-generation family with SDHD c.242C>T (p.Pro81Leu) mutation., Results: The index patient had a histologically confirmed pheochromocytoma and an identical SDHD germline mutation (p.Pro81Leu) to her mother (who had a glomus jugulare tumor) and paraganglioma tissue from her maternal grandfather. Tumor DNA from the index patient revealed loss of heterozygosity (LOH) at 11q23, causing loss of the wild-type paternal SDHD allele and LOH affecting maternal 11p15, including H19. These two regions of LOH were separated by a region exhibiting clearly retained heterozygosity, including SDHAF2, a recently reported paraganglioma susceptibility gene., Conclusions: Tumor formation can occur after maternal transmission of SDHD, a finding with important clinical implications for SDHD families. Tumor formation in SDHD mutation requires the loss of both the wild-type SDHD allele and maternal 11p15, leading to the predominant but now not exclusive pattern of disease inheritance after paternal SDHD transmission.
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- 2011
- Full Text
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11. A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q.
- Author
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Whiteford ML, Baird C, Kinmond S, Donaldson B, and Davidson HR
- Subjects
- Child, Preschool, Chromosome Disorders, Female, Humans, Karyotyping, Male, Abnormalities, Multiple genetics, Chromosome Aberrations genetics, Chromosome Inversion, Chromosomes, Human, Pair 15 genetics
- Published
- 2000
- Full Text
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12. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
- Author
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Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, and Gelb BD
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- 3T3 Cells, Abnormalities, Multiple etiology, Alanine genetics, Amino Acid Sequence, Animals, Aspartic Acid genetics, Cell Line, Ductus Arteriosus, Patent etiology, Hand Deformities, Congenital etiology, Mice, Molecular Sequence Data, Neural Crest abnormalities, Syndrome, Transcription Factor AP-2, Abnormalities, Multiple genetics, DNA-Binding Proteins genetics, Ductus Arteriosus, Patent genetics, Face abnormalities, Hand Deformities, Congenital genetics, Mutation, Transcription Factors genetics
- Abstract
Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Using a positional candidacy strategy, we mapped TFAP2B, encoding a transcription factor expressed in neural crest cells, to the Char syndrome critical region and identified missense mutations altering conserved residues in two affected families. Mutant TFAP2B proteins dimerized properly in vitro, but showed abnormal binding to TFAP2 target sequence. Dimerization of both mutants with normal TFAP2B adversely affected transactivation, demonstrating a dominant-negative mechanism. Our work shows that TFAP2B has a role in ductal, facial and limb development and suggests that Char syndrome results from derangement of neural-crest-cell derivatives.
- Published
- 2000
- Full Text
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13. A human BRCA1 gene knockout.
- Author
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Boyd M, Harris F, McFarlane R, Davidson HR, and Black DM
- Subjects
- Adult, BRCA1 Protein, Female, Homozygote, Humans, Male, Neoplasms genetics, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic, Polymorphism, Single-Stranded Conformational, Breast Neoplasms genetics, Mutation, Neoplasm Proteins genetics, Ovarian Neoplasms genetics, Transcription Factors genetics
- Published
- 1995
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14. The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.
- Author
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Tolmie JL, Davidson HR, May HM, McIntosh K, Paterson JS, and Smith B
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- Adult, Chorionic Villi Sampling, Female, Genetic Counseling, Genetic Markers, Genetic Testing, Humans, Male, Pregnancy, Prenatal Diagnosis, Scotland, DNA analysis, Huntington Disease diagnosis, Huntington Disease genetics
- Abstract
Information about the prenatal exclusion test for Huntington's disease (HD) has been given to an unselected series of couples who attended the genetic counselling clinic from 1986 onwards. Ten couples underwent 13 prenatal tests during this period with expressed intention of stopping a pregnancy if the result indicated a high risk (almost 50%) that the fetus carried the HD gene. Nine fetuses at nearly 50% risk of carrying the HD gene were identified but only six such pregnancies were terminated. In each of three high risk pregnancies which continued, the mother made a "final hour" decision not to undergo the scheduled, first trimester termination. In our experience, late reversal of a previous decision to undergo first trimester pregnancy termination for a genetic indication is uniquely frequent among couples who have undergone the prenatal exclusion test for HD.
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- 1995
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15. A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.
- Author
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Purandare SM, Davidson HR, Lanyon WG, and Connor JM
- Subjects
- Adult, Base Sequence, DNA analysis, DNA Mutational Analysis, Exons genetics, Female, Humans, Molecular Sequence Data, Neurofibromin 1, Nucleic Acid Heteroduplexes, Polymerase Chain Reaction, Proteins genetics, Frameshift Mutation genetics, Genes, Neurofibromatosis 1 genetics, Germ-Line Mutation genetics, Mutagenesis, Insertional, Neurofibromatosis 1 genetics
- Published
- 1994
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16. A large family with patent ductus arteriosus and unusual face.
- Author
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Davidson HR
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Female, Gene Expression, Genes, Dominant, Humans, Infant, Infant, Newborn, Male, Middle Aged, Pedigree, Physiognomy, Ductus Arteriosus, Patent genetics
- Abstract
A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.
- Published
- 1993
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17. The angiotensin I converting enzyme gene and predisposition to high blood pressure.
- Author
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Harrap SB, Davidson HR, Connor JM, Soubrier F, Corvol P, Fraser R, Foy CJ, and Watt GC
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- Adult, Aldosterone blood, Alleles, Angiotensin II blood, Diastole, Family, Female, Genetic Predisposition to Disease, Genotype, Humans, Hypertension enzymology, Male, Middle Aged, Parents, Peptidyl-Dipeptidase A blood, Renin blood, Systole, Blood Pressure, Hypertension genetics, Peptidyl-Dipeptidase A genetics
- Abstract
Phenotypic abnormalities of the renin-angiotensin system have been associated with the predisposition to high blood pressure. The angiotensin I converting enzyme (ACE) gene has been implicated as a candidate gene. We examined the distribution of common alleles of the ACE gene and measured circulating components of the renin-angiotensin system and urinary sodium excretion in 170 young Caucasian adults with contrasting genetic predisposition to high blood pressure. Predisposition was defined on the basis of personal and parental blood pressure levels by using the four corners sampling method. Young adults with greatest predisposition who had high blood pressure and two parents with high blood pressure did not show any significant difference in the distribution of the markers of the ACE gene, either as genotype or allele frequencies, when compared with young adults with least predisposition who had low blood pressure and two parents with low blood pressure. Offspring with urinary sodium excretion above the median (143.4 mmol per day) also showed no significant differences in the distribution of ACE alleles or genotype between groups. Different genotypes were associated with different average serum ACE concentrations (p < 0.0001), but plasma angiotensin II and aldosterone showed no significant variation with ACE genotype. These results suggest that in a group of Caucasians selected from the general population, the ACE gene is not associated with genetic predisposition to high blood pressure. In this population common ACE gene allelic markers would not be useful indexes of susceptibility to hypertension.
- Published
- 1993
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18. Abnormalities of glucocorticoid metabolism and the renin-angiotensin system: a four-corners approach to the identification of genetic determinants of blood pressure.
- Author
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Watt GC, Harrap SB, Foy CJ, Holton DW, Edwards HV, Davidson HR, Connor JM, Lever AF, and Fraser R
- Subjects
- Adolescent, Adult, Epidemiologic Methods, Feasibility Studies, Female, Humans, Hypertension epidemiology, Male, Middle Aged, Polymorphism, Restriction Fragment Length, Receptors, Glucocorticoid genetics, Risk Factors, Sampling Studies, Blood Pressure genetics, Glucocorticoids metabolism, Hypertension genetics, Renin-Angiotensin System genetics
- Abstract
Aim: To assess the feasibility and utility of a new method to identify factors associated with increased predisposition to high blood pressure in young people., Subjects: Eight hundred and sixty-four people aged 16-24 years and their parents., Setting: Ladywell Medical Centre, Edinburgh, Scotland, UK., Method: Blood pressure was measured in 864 young adults and in both of their parents. Four groups of approximately 50 offspring were selected from the corners of a scatter diagram, with offspring blood pressure scores on one axis and combined parental blood pressure scores on the other. Blood and urine samples were taken for biochemical and genetic analyses., Results: Two groups of offspring had parents with high blood pressure and two groups had parents with low blood pressure. When parental blood pressure was low, comparison of offspring with high and low blood pressure revealed significantly higher mean body mass index in offspring with high blood pressure, but no significant elevation of biochemical or hormonal variables. When parental blood pressure was high, comparison of offspring with high and low blood pressure also revealed a significant difference in body mass index, but in addition, offspring with high blood pressure and high parental blood pressure had higher levels of angiotensinogen, cortisol and 18-OH corticosterone. Restriction fragment length polymorphism analysis revealed that 27% of offspring at the greatest genetic risk (high personal and parental blood pressure) were homozygous for the larger allele of the glucocorticoid receptor gene compared with only 9% of those at lowest genetic risk (low personal and parental blood pressure)., Conclusion: The combined biochemical and genetic findings suggest that abnormalities of glucocorticoid metabolism and the renin-angiotensin system may help to explain genetic predisposition to high blood pressure. The new sampling method is practicable and could be applied to the investigation of other continuously distributed variables which show familial aggregation.
- Published
- 1992
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19. Dyskeratosis congenita.
- Author
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Davidson HR and Connor JM
- Subjects
- Humans, Leukoplakia congenital, Nail Diseases congenital, Pigmentation Disorders pathology, Skin Neoplasms congenital, Syndrome, Leukoplakia pathology, Nail Diseases pathology, Pigmentation Disorders congenital, Skin Neoplasms pathology
- Published
- 1988
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20. Micro-injection of 14C-sucrose into single living sieve tubes of Heracleum.
- Author
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Fensom DS and Davidson HR
- Subjects
- Biological Transport, Carbon Isotopes, Potassium Chloride, Potassium Isotopes, Plant Physiological Phenomena, Sucrose metabolism
- Published
- 1970
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21. The size of acceptable color differences.
- Author
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DAVIDSON HR and FRIEDE E
- Subjects
- Color
- Published
- 1953
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22. A simple analog computer for thermodynamic calculations.
- Author
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DAVIDSON HR and FULLER DL
- Subjects
- Chemical Phenomena, Chemistry, Physical, Computers, Analog, Physical Examination, Thermodynamics
- Published
- 1951
- Full Text
- View/download PDF
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