Results 51 to 60 of about 10,048,978 (405)

Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes

Scientific Reports, 2021
Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein, Mitch Conery, Kevin M. Magnaye, Selene M. Clay, Christine Billstrand, Raluca Nicolae, Katherine Naughton, Carole Ober, Emma E. Thompson   +8 more
doaj   +1 more source

HUMAN TASTE GENETICS [PDF]

Annual Review of Genomics and Human Genetics, 2005
▪ Abstract  Humans show substantial differences in taste sensitivity to many different substances. Some of this variation is known to be genetic in origin, and many other inter-individual differences are likely to be partially or wholly determined by genetic mechanisms. Recent advances in the understanding of taste at the molecular level have provided
openaire   +3 more sources

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

Scientific Reports, 2021
SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker, Flavia-Bianca Cristian, Manja von Hahn, Volker Eckstein, Gudrun A. Rappold, Simone Berkel   +5 more
doaj   +1 more source

Behinderung – Genetik – Vorsorge. Sterilisationspraxis und humangenetische Beratung in der Bundesrepublik

Zeithistorische Forschungen, 2013
To this day, there is no comprehensive account of the history of genetic counseling in the FRG. This is surprising, as studying the connections between counseling practice and disability as well as concepts and critique of Human Genetics allows for an ...
Britta-Marie Schenk
doaj   +1 more source

Protease inhibitor (Pi) locus, fertility and twinning [PDF]

, 1992
In a sample of 160 Dutch twin pairs and their parents, we found that mothers of dizygotic twins had frequencies of the S and Z alleles at the protease inhibitor (Pi) locus that were 3 times higher than a control sample.
Bank, R.A., Boomsma, D.I., Frants, R.R., Martin, N.G.   +3 more
core   +1 more source

Genetics in human reproduction

JBRA Assisted Reproduction, 2020
Approximately 50% of the causes of infertility are of genetic origin. The objective of this study was to analyze the role of genetics in human reproduction by reviewing the main genetic causes of infertility and the use of preimplantation genetic testing in Brazil.
Vivian de Oliveira Rodrigues, Fernanda Polisseni, Gabriel Duque Pannain, Miralva Aurora Galvão Carvalho   +3 more
openaire   +3 more sources

Genetics of human cataract [PDF]

Clinical Genetics, 2013
The pathogenesis of inherited cataracts of all kinds recapitulates the developmental and cell biology of the lens. Just as each novel mutation provides additional information about the structural or functional biology of the affected gene, each newly identified gene provides insight into the developmental and cellular biology of the lens.
Alan Shiels, J. F. Hejtmancik
openaire   +2 more sources

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

European Journal of Human Genetics, 2018
Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting
D. Carrieri, H. Howard, C. Benjamin, A. Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F. Halbersma-Konings, Leigh Jackson, H. Kayserili, S. Kelly, A. Lucassen, Álvaro Mendes, E. Rial‐Sebbag, V. Stefansdottir, P. Turnpenny, C. V. van El, I. V. van Langen, M. Cornel, F. Forzano   +19 more
semanticscholar   +1 more source

Some pioneers of European human genetics [PDF]

, 2017
Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of earlier workers in the field recalled by interviewees, provide a vivid picture ...
A Hogben, EM Jones, EM Jones, F Mitelman, F Vogel, F Vogel, G Broberg, H Eiberg, H Winiwarter, J Mohr, J: Bell, JH Tjio, K Dronamraju, M Gautier, M Geiser, M Hulten, MT Macklin, OL Mohr, Peter S Harper, PS Harper, PS Harper, PS Harper, R Laxova, R Norio, S Gilgenkrantz, T Caspersson, Z Medvedev, Z Medvedev   +27 more
core   +1 more source

Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016. [PDF]

, 2017
The 9th meeting of the African Society of Human Genetics, in partnership with the Senegalese Cancer Research and Study Group and the Human Heredity and Health in Africa (H3Africa) Consortium, was held in Dakar, Senegal.
Cisse, A, Dem, A, Dieye, A, Diop, JPD, Diop, N, Faye, O, Gadji, M, Gaye, A, Guèye, MV, Guèye, PM, Hennig, BJ, Ka, S, Lopez Sall, P, Matovu, E, Ndiaye Diallo, R, Newport, M, Ramesar, RS, Ramsay, M, Rotimi, C, Sembene, M, Sylla Niang, M, Williams, SM, Wonkam, A   +22 more
core   +3 more sources