Results 11 to 20 of about 2,863,419 (210)

Alpha1-antitrypsin deficiency: a clinical-genetic overview

The Application of Clinical Genetics, 2011
Raja T Abboud1, Tanya N Nelson2, Benjamin Jung2, Andre Mattman31Department of Medicine, Respiratory Division, University of British Columbia, Vancouver, BC, Canada; 2Department of Pathology and Laboratory Medicine, Children's and Women's ...
Abboud RT, Nelson TN, Jung B, Mattman A
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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
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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
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Lung function in the general population : the complex interplay of variants in "Serpina1" and other genes with the environment [PDF]

, 2013
Background. One of the globally most frequent health problems are obstructive lung diseases such as asthma and chronic obstructive pulmonary disease.
Thun, Gian Andri
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Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]

, 2010
Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA, Chung, TTLL, Clark, AJ, Chung, TT, Chan, LF, Clark, AJL   +5 more
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Genetic Responses to Phosphorus Deficiency [PDF]

Annals of Botany, 2004
Phosphorus (P) is an essential macronutrient for plants. Plants take up P as phosphate (Pi) from the soil solution. Since little Pi is available in most soils, P fertilizers are applied to crops. However, the use of P fertilizers is unsustainable and may cause pollution.
John P, Hammond, Martin R, Broadley, Philip J, White   +2 more
openaire   +2 more sources

Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]

, 2009
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
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Genetic models of vasopressin deficiency [PDF]

Experimental Physiology, 2000
Animal models of genetic hormone deficiency are useful as models for physiological studies of hormone deficiency and hormone action. Structure—function studies of the specific underlying gene defect may help in understanding mechanisms regulating gene expression and secretion of the peptide product. Spontaneous genetic models of vasopressin deficiency,
openaire   +2 more sources

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   +49 more
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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
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