Genetics Newswire (Page 8)

Comprehensive Real-Time News Feed for Genetics. (Page 8)

Results 141 - 160 of 57,076 in Genetics

  1. A thug by any other nameRead the original story w/Photo

    Wednesday May 13 | Examiner.com

    ... politicians). Thugs can have various races and professions. It is a word used to describe their actions not their genetics. A thug can wear gang colors, the regalia of a Skinhead or Black Panther, or the badges of local, state, and federal law ...

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  2. X-linked gene mutations cause some cases of male infertility, Pitt study saysRead the original story w/Photo

    Tuesday May 12 | EurekAlert!

    ... Center for Fertility and Reproductive Endocrinology at Magee-Womens Hospital of UPMC, and the Institute of Human Genetics of the Polish Academy of Sciences in Poznan, Poland. Also, TEX11 gene errors were found in five out of 240 infertile men from ...

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  3. Xenon Pharmaceuticals Inc. Reports First Quarter 2015 Financial...Read the original story

    Tuesday May 12 | BioSpace

    ... this year, filing an IND in our Dravet Syndrome program in 2016 and identifying novel target using our Extreme Genetics platform." Xenon's partner Teva Pharmaceutical Industries Ltd. is conducting a randomized, double-blind, placebo-controlled Phase ...

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  4. The Michael J. Fox Foundation For Parkinson's Research Confers...Read the original story

    Tuesday May 12 | BioSpace

    ... where she directs the Laboratory of Experimental Gene Therapy. During the course of a 30-year career studying the genetics of movement disorders, Dr. Breakefield led a team that in 1997 identified the gene responsible for early onset dystonia, which ...

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  5. Strand Life Sciences Introduces Scientific Advisory BoardRead the original story

    Tuesday May 12 | BioSpace

    Strand Life Sciences, a global genomic profiling company that uses next-generation sequencing technology to empower cancer care, today announced the appointment of its scientific advisory board. "Our scientific advisory board members are thought-leaders in genetics and molecular biology who will help guide the work of the more than 200 scientists and engineers we employ to advance our pan-cancer genomic profiling technology," said , global president of Strand Life Sciences.

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  6. Functional analysis of four LDLR 5a 2UTR and promoter variants in...Read the original story

    Thursday May 14 | European Journal of Human Genetics

    European Journal of Human Genetics 23, 790–795; doi:10.1038/ejhg.2014.199; published online 24 September 2014 Correspondence: Professor SE Humphries, Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Institute Cardiovascular Science, University College London Medicine School, The Rayne Building, 5 University Street, London WC1E 6JF, UK. Tel: +44 20 7679 6962; Fax: +44 20 7679 6212; E-mail: rmhaseh@ucl.ac.uk Familial hypercholesterolaemia is an autosomal dominant inherited disease characterised by increased low-density lipoprotein cholesterol levels.

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  7. Heritability estimates on Hodgkin's lymphoma: a genomic- versus population-based approachRead the original story

    Thursday May 14 | European Journal of Human Genetics

    European Journal of Human Genetics 23, 824–830; doi:10.1038/ejhg.2014.184; published online 17 September 2014 Correspondence: Dr H Thomsen, German Cancer Research Center , Division of Molecular Genetic Epidemiology, C050, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany. Tel: +49 6221 421809; Fax: +49 6221 421810; E-mail: h.thomsen@dkfz-heidelberg.de Genome-wide association studies have identified several single-nucleotide polymorphisms influencing the risk of Hodgkin’s lymphoma and demonstrated the association of common genetic variation for this type of cancer.

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  8. MBD5 haploinsufficiency is associated with sleep disturbance and...Read the original story

    Thursday May 14 | European Journal of Human Genetics

    European Journal of Human Genetics 23, 781–789; doi:10.1038/ejhg.2014.200; published online 1 October 2014 MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes Correspondence: Dr SH Elsea, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.

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  9. Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1...Read the original story

    Thursday May 14 | European Journal of Human Genetics

    European Journal of Human Genetics 23, 796–802; doi:10.1038/ejhg.2014.181; published online 10 September 2014 Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family Correspondence: Dr A Jørgensen, Division of Child and Adolescent Health, Medical Genetics Department, University Hospital of North Norway, PB 6060, Tromsø 9038, Norway. Tel: +47 77 64 54 10; Fax: +47 77 64 54 30; E-mail: agnete.jorgensen@unn.no Vascular Ehlers–Danlos Syndrome , also known as EDS type IV, is considered to be an autosomal dominant disorder caused by sequence variants in COL3A1 , which encodes the chains of type III procollagen.

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  10. Clinical utility gene card for: Werner Syndrome - Update 2014Read the original story

    Thursday May 14 | European Journal of Human Genetics

    Correspondence: Dr FM Hisama, Division of Medical Genetics, Department of Medicine, University of Washington, Box 357720, 1959 NE Pacific St, Seattle, WA 98195, USA. Tel: +1 206 598 4030; Fax: +1 206 598 3269; E-mail: fmh2@u.washington.edu Update to : European Journal of Human Genetics 20 , doi: 10.1038/ejhg.2011.265 ; published online 18 January 2012 2 One or two mutations are identified in the majority of patients who fulfil clinical diagnostic criteria.

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  11. Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP)...Read the original story w/Photo

    Thursday May 14 | European Journal of Human Genetics

    Correspondence: Professor Dr S Aretz, Institute of Human Genetics, University of Bonn, Sigmund-Freud-Strasse 25, D-53127 Bonn, Germany. Tel: +49 228 Update to : European Journal of Human Genetics 19, doi: 10.1038/ejhg.2011.7 ; published online 2 February 2011 Familial adenomatous polyposis , adenomatous polyposis coli , familial polyposis coli , attenuated adenomatous polyposis coli ; phenotypic variants: Gardner syndrome, Turcot syndrome.

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  12. Clinical utility gene card for: Abetalipoproteinaemia - Update 2014Read the original story w/Photo

    Thursday May 14 | European Journal of Human Genetics

    Correspondence: Dr JR Burnett, Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Wellington Street, Perth, WA 6847, Australia. Tel: +61 8 9224 3121; Fax: +61 8 9224 1789; E-mail: john.burnett@health.wa.gov.au Update to: European Journal of Human Genetics 20 , doi: 10.1038/ejhg.2012.30 ; published online 29 February 2012 Over 30 variants in MTTP associated with abetaliopoproteinaemia have been described, mostly missense, nonsense and splicing variants located throughout the gene's 18 exons.

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  13. Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) - Update 2014Read the original story

    Thursday May 14 | European Journal of Human Genetics

    Correspondence: Dr JR Burnett, Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital, Wellington Street, GPO Box X2213, Perth, Western Australia 6847, Australia. Tel: +61 8 9224 3121; Fax: +61 8 9224 1789; E-mail: john.burnett@health.wa.gov.au Update to: European Journal of Human Genetics 20, doi: 10.1038/ejhg.2012.85 ; published online 16 May 2012 4 Missense variants affecting the amino terminal region of the apolipoprotein B protein have also been described in familial hypobetalipoproteinaemia.

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  14. Parents told to abort their baby girl because she would be born with an ugly faceRead the original story w/Photo

    Wednesday May 13 | NewsTarget.com

    ... facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia)," NIH said on its Genetics Home Reference website. The condition has also left Moore profoundly deaf. The Daily Mail reports that the condition affects just one ...

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  15. X-linked gene mutations cause some cases of male infertility, study saysRead the original story w/Photo

    Wednesday May 13 | PhysOrg Weblog

    ... Center for Fertility and Reproductive Endocrinology at Magee-Womens Hospital of UPMC, and the Institute of Human Genetics of the Polish Academy of Sciences in Poznan, Poland. Also, TEX11 gene errors were found in five out of 240 infertile men from ...

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  16. Tumor Sequencing Study Highlights Benefits of Profiling Healthy Tissue as WellRead the original story

    Wednesday May 13 | Newswise

    ... panel of 19 genes for which mutations are implicated as a significant cancer risk. The American College of Medical Genetics and Genomics recommends that harmful mutations in these genes, including TP53, BRCA1, BRCA2, PTEN and RB1, be shared with ...

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  17. Researchers find some rare diseases are caused by the destruction of functional boundaries within DNARead the original story w/Photo

    Wednesday May 13 | PhysOrg Weblog

    ... the regulator/enhancer can also influence genes that are normally shielded from it. Credit: MPI f. Molecular Genetics/ Thomas Splettstoesser, www.scistyle.com Recent investigations have shown that our genome and those of other mammals is partitioned ...

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  18. Genes cause us to get sicker in the winter: studyRead the original story w/Photo

    Wednesday May 13 | New York Daily News

    ... would be subtly affected by "seasonality," the researchers said. Lead scientist John Todd, a professor of medical genetics at the University of Cambridge, said the discovery was both "really surprising" but also "obvious." "It helps explain why so ...

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  19. When Extra X Chromosome Won't Stay Silent, Rogue RNA May Be to BlameRead the original story w/Photo

    Wednesday May 13 | Health News Digest

    ... XIST begins to silence one of the X chromosomes," says Marc Lalande, professor and chairman of the Department of Genetics and Genome Sciences at UConn Health, and a co-author of the study. "Catching such a 'ground' or 'naA ve' state of human ...

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  20. 15 Signs You'll Raise a GeniusRead the original story w/Photo

    Wednesday May 13 | Today.Az

    ... over whether IQ , EQ , executive function , and/or academic achievement matters most. Nature? Nurture? The role of genetics in intelligence-i.e., the extent to which our smarts are inherited-has long been an academic war zone. What can raise your ...

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