Results 31 to 40 of about 3,006,865 (307)

Platelet glycoprotein VI genetic quantitative and qualitative defects

Platelets, 2019
Platelet membrane glycoprotein VI (GPVI) is increasingly recognized as an important receptor for thrombus formation and growth. Numerous arguments have been published indicating that GPVI plays a major role in thrombosis without being essential for ...
Martine Jandrot-Perrus, Cedric Hermans, Diego Mezzano   +2 more
doaj   +1 more source

Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy [PDF]

, 2003
Background: A substantial group of patients with cholestatic liver disease in infancy excrete, as the major urinary bile acids, the glycine and taurine conjugates of 7alpha-hydroxy-3-oxo-4-cholenoic acid and 7alpha, 12alpha-dihydroxy-3- oxo-4-cholenoic ...
Duran, M., Scambler, PJ, Custard, E. J., Bouquet, J, Lemonde, H. A., Clayton, P. T., Duran, M, Overmars, H, Bouquet, J., Scambler, P.J., Lemonde, H., Clayton, P.T., Custard, EJ, Scambler, P. J., Clayton, PT, Lemonde, HA, Custard, E.J., Overmars, H.   +17 more
core   +2 more sources

Neurological health and premature ovarian insufficiency – pathogenesis and clinical management

Menopause Review, 2018
Premature ovarian insufficiency (POI) is related to neurological problems through neurological symptoms of oestrogen deficiency, diseases caused by oestrogen deficiency, and neurological genetic diseases. Neurological symptoms of oestrogen deficiency are
Radosław Słopień
doaj   +1 more source

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria. [PDF]

, 2012
BACKGROUND: Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far.
Cláudia Gomes (127952), Licínio Manco (127951), Cláudia Gomes, Juliana Miranda (127964), Sérgio Chibute, Cano, Jorge, Graça Salomé (127955), Miranda, Juliana, Cristina Mendes, Sitoe, Luis, Ribeiro, Letícia, Sérgio Chibute (127957), José Langa (127958), Ana Paula Arez (127971), Fernandes, Natércia, Graça Salomé, António Amorim (3284517), do Rosário, Virgílio E, Ana Paula Arez, do Rosário, Virgílio E., Langa, José, Juliana Miranda, Chibute, Sérgio, Letícia Ribeiro (127961), José Langa, Ochando, Jordi, Patrícia Machado, Patrícia Machado (127949), Gomes, Cláudia, Letícia Ribeiro, Arez, Ana Paula, Salomé, Graça, Machado, Patrícia, João Pinto (36645), Manco, Licínio, Pinto, João, Jorge Cano (37194), Mendes, Cristina, Amorim, António, Natércia Fernandes, Virgílio E do Rosário, António Amorim, Virgílio E. do Rosário (36653), João Pinto, Natércia Fernandes (127954), Cristina Mendes (127953), Licínio Manco, Luis Sitoe, Luis Sitoe (127956), Jorge Cano, Ribeiro Letícia, do Rosário Virgílio E., Chibute Sérgio, Amorim António, Cano Jorge, Machado Patrícia, Mendes Cristina, Arez Ana Paula, Gomes Cláudia, Miranda Juliana, Fernandes Natércia, Sitoe Luis, Langa José, Pinto João, Manco Licínio, Salomé Graça   +65 more
core   +1 more source

A Review of Selected Genes with Known Effects on Performance and Health of Cattle

Frontiers in Veterinary Science, 2016
There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have
Eduardo Casas, Marcus E. Kehrli
doaj   +1 more source

Genetic regulation of pituitary gland development in human and mouse [PDF]

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Robin Lovell-Badge, Dattani, M. T., Robinson, I. C. A. F., Mehul T. Dattani, Lovell-Badge, R., Karine Rizzoti, Iain C. A. F. Robinson, Rizzoti, K., Kelberman, D., Daniel Kelberman   +9 more
core   +1 more source

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency. [PDF]

PLoS ONE, 2016
Antithrombin is a crucial anticoagulant serpin whose even moderate deficiency significantly increases the risk of thrombosis. Most cases with antithrombin deficiency carried genetic defects affecting exons or flanking regions of SERPINC1.We aimed to ...
Mara Toderici, María Eugenia de la Morena-Barrio, José Padilla, Antonia Miñano, Ana Isabel Antón, Juan Antonio Iniesta, María Teresa Herranz, Nuria Fernández, Vicente Vicente, Javier Corral   +9 more
doaj   +1 more source

Genetics of Growth Disorders—Which Patients Require Genetic Testing?

Frontiers in Endocrinology, 2019
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Jesús Argente, Katrina Tatton-Brown, Dagmar Lehwalder, Roland Pfäffle   +3 more
doaj   +1 more source

Integrating Functional, Structural, and Predictive Data in the Analysis of the Recombination Activating Gene (RAG) Genomic Variants

Journal of Human Immunity
The RAG1 and RAG2 genes encode proteins essential for initiating V(D)J recombination in T cell receptor and immunoglobulin gene loci. Biallelic pathogenic variants in these genes are implicated in a spectrum of immunodeficiency disorders, characterized ...
Gloria Magro, Heather Kenney, Neshatul Haque, Raul Urrutia, Michael Zimmermann, Luigi Notarangelo   +5 more
doaj   +1 more source

Differences in the frequency of genetic variants associated with iron imbalance among global populations.

PLoS ONE, 2020
Iron deficiency anaemia is a major health problem affecting approximately 1.2 billion people worldwide. Young children, women of reproductive age and pregnant women living in sub-Saharan Africa are the most vulnerable.
Momodou W Jallow, Carla Cerami, Taane G Clark, Andrew M Prentice, Susana Campino   +4 more
doaj   +1 more source