Gene Structure for Adenosine Kinase in Chinese Hamster and Human: High-Frequency Mutants of CHO Cells Involve Deletions of Several Introns and Exons
- ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Hargreaves, Diana C.; Crabtree, Gerald R. // Cell Research;Mar2011, Vol. 21 Issue 3, p396
Macromolecular assemblies that regulate chromatin structure using the energy of ATP hydrolysis have critical roles in development, cancer, and stem cell biology. The ATPases of this family are encoded by 27 human genes and are usually associated with several other proteins that are stable,...
- Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. Shoukier, Moneef; Neesen, Juergen; Sauter, Simone M.; Argyriou, Loukas; Doerwald, Nadine; Pantakani, D. V. Krishna; Mannan, Ashraf U. // European Journal of Human Genetics;Feb2009, Vol. 17 Issue 2, p187
The SPAST gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP). In this study, we attempted to expand and refine the genetic and phenotypic characteristics of SPAST associated HSP by examining a large cohort...
- First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. Vanmolkot, Kaate R. J.; Stam, Anine H.; Raman, Ashok; Koenderink, Jan B.; de Vries, Boukje; van den Boogerd, Eelke H.; van Vark, Judith; van den Heuvel, Jeroen J. M. W.; Bajaj, Nin; Terwindt, Gisela M.; Haan, Joost; Frants, Rune R.; Ferrari, Michel D.; van den Maagdenberg, Arn M. J. M. // European Journal of Human Genetics;Aug2007, Vol. 15 Issue 8, p884
Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP1A2 segregate in the proband with hemiplegic...
- A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. Oh, Se-Kyung; Baek, Jeong-In; Weigand, Karl M; Venselaar, Hanka; Swarts, Herman G P; Park, Seong-Hyun; Hashim Raza, Muhammad; Jung, Da Jung; Choi, Soo-Young; Lee, Sang-Heun; Friedrich, Thomas; Vriend, Gert; Koenderink, Jan B; Kim, Un-Kyung; Lee, Kyu-Yup // European Journal of Human Genetics;May2015, Vol. 23 Issue 5, p639
Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss...
- Can enhancement be distinguished from prevention in genetic medicine? Juengst, Eric T. // Journal of Medicine & Philosophy;Apr97, Vol. 22 Issue 2, p125
Discusses the ethics of human gene transfer as it relates to the philosophy of medicine. Use of human gene transfer techniques to treat health problems; Impact on the normal human traits; Disputes over the normative force of this distinction; Arguments that a line should be drawn between...
- The first 25 years of human genetics in Newcastle. Papiha, S.S. // Human Biology;Oct96, Vol. 68 Issue 5, p603
Focuses on the history of human genetics in Newcastle, England. Development of a human genetics department by the late professor D.F. Roberts; Teaching of human genetics.
- Did a gene make him do this? // Current Science;4/19/96, Vol. 81 Issue 16, p14
Reports that researchers of Israel and the United States discovered a gene which suggested that thrill seeking behavior can be inherited. Findings of the researchers; What findings were based on; Comments from Jonathan Benjamin, who co-authored the study.
- Twins spring gene shocker. Holmes, Bob // New Scientist;06/14/97, Vol. 154 Issue 2086, p16
Presents the results of a study on the role of genes in determining man's mental abilities in later life, as conducted by London Institute of Psychiatry behavioral genetist Robert Plomin. Factors that affect mental abilities; Increase of genetic contribution to mental abilities with age.
- From genes for intelligence to our understanding of genes. Darlu, Pierre // Diogenes;1997, Vol. 45 Issue 180, p21
Provides information on the history and development of human genetics. Debates on the role of social or biological heredity in the expression of criminality, mental retardation or intelligence; Who discovered the first human blood typing called the ABO system; Information on the chromosome...