Results 91 to 100 of about 2,863,419 (210)

Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles

Monaldi Archives for Chest Disease, 2005
Background. Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy.
F.J. de Serres, M. Luisetti, I. Ferrarotti, I. Blanco, E. Fernández-Bustillo   +4 more
doaj   +1 more source

Genetic Deficiency of the Long Pentraxin 3 Affects Osteogenesis and Osteoclastogenesis in Homeostatic and Inflammatory Conditions. [PDF]

Int J Mol Sci, 2023
Granata V, Strina D, Schiavone ML, Bottazzi B, Mantovani A, Inforzato A, Sobacchi C.   +6 more
europepmc   +1 more source

Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study

Journal of Biochemical and Clinical Genetics
Background: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare inborn error of valine catabolism associated with progressive neurological impairment.
Emtithal Al jishi, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, Heba Alkoheji   +5 more
doaj   +1 more source

Ectopic Rod Photoreceptor Development in Mice with Genetic Deficiency of WNT2B. [PDF]

Cells, 2023
Blomfield AK, Maurya M, Bora K, Pavlovich MC, Yemanyi F, Huang S, Fu Z, O'Connell AE, Chen J.   +8 more
europepmc   +1 more source

Genetic layout and genetic structure of the greenhouse whitefly Trialeurodes vaporariorum from Serbia

, 2019
Trialeurodes vaporariorum Westwood (Hemiptera: Aleyrodidae), a haplo-diploid sap feeding insect species, is a vector of many plant viruses and a serious polyphagous pest of greenhouse-grown vegetables and ornamental plants worldwide.
Drobnjaković, Tanja, Marčić, Dejan, Prijović, Mirjana, Banjanac, Tijana, Aleksić, Jelena   +4 more
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Economic Impact Analysis of Marker-Assisted Breeding in Rice [PDF]

The benefits of developing and releasing salinity-tolerant and phosphorous-deficiency-tolerant rice in Bangladesh, India, Indonesia and the Philippines were estimated for marker-assisted breeding as compared to conventional breeding using economic ...
Alwang, Jeffrey Roger, Alpuerto, Vida, Norton, George W.   +2 more
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Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Molecular Genetics and Metabolism Reports
Background and aims: Primary Coenzyme Q (CoQ) deficiency caused by COQ4 defects is a clinically heterogeneous mitochondrial condition characterized by reduced levels of CoQ10 in tissues. Next-generation sequencing has lately boosted the genetic diagnosis
María Alcázar-Fabra, Elsebet Østergaard, Daniel J.M. Fernández-Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado, Laura García-Corzo, María del Mar Blanquer-Roselló, Abigail K. Bartlett, Ana Sánchez-Cuesta, Lucía Sena, Ana Cortés-Rodríguez, María Victoria Cascajo-Almenara, David J. Pagliarini, Eva Trevisson, Sabine W. Gronborg, Gloria Brea-Calvo   +16 more
doaj   +1 more source

Genetic deficiency of protein inhibitor of activated STAT3 suppresses experimental abdominal aortic aneurysms. [PDF]

Front Cardiovasc Med, 2023
Fu W, Liu H, Wei P, Xia C, Yu Q, Tian K, Li Y, Liu E, Xu B, Miyata M, Wang R, Zhao S.   +11 more
europepmc   +1 more source

Genetic deficiency and pharmacological modulation of RORα regulate laser-induced choroidal neovascularization. [PDF]

Aging (Albany NY), 2023
Liu CH, Yemanyi F, Bora K, Kushwah N, Blomfield AK, Kamenecka TM, SanGiovanni JP, Sun Y, Solt LA, Chen J.   +9 more
europepmc   +1 more source

Protein and cell therapy for lecithin-cholesterol acyltransferase (LCAT) deficiency [PDF]

, 2009
Lecithin-cholesterol acyltransferase (LCAT) is an enzyme principally secreted by the liver into the circulation where it esterifies cholesterol and plays a key role in high- density lipoprotein (HDL) metabolism. In familial and acquired (liver disease)
Low, J K, Low, J.K.
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