Results 51 to 60 of about 10,086,238 (407)

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
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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

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

iScience
Summary: ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when
Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley   +5 more
doaj   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
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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
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HAGR: the Human Ageing Genomic Resources [PDF]

, 2004
The Human Ageing Genomic Resources (HAGR) is a collection of online resources for studying the biology of human ageing. HAGR features two main databases: GenAge and AnAge. GenAge is a curated database of genes related to human ageing.
Costa, Joana, de Magalhães, João Pedro, Toussaint, Olivier   +2 more
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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

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

Journal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Rana Mahrous, Khaled Refaat, Marwa Farid   +7 more
doaj   +1 more source

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton   +23 more
doaj   +1 more source

Human and molecular genetics shed lights on fatty liver disease and diabetes conundrum

Endocrinology, Diabetes & Metabolism, 2020
The causal role of abdominal overweight/obesity, insulin resistance and type 2 diabetes (T2D) on the risk of fatty liver disease (FLD) has robustly been proven.
Federica Tavaglione, Giovanni Targher, Luca Valenti, Stefano Romeo   +3 more
doaj   +1 more source