Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China [PDF]
Cytochrome P450 17α-hydroxylase (P450c17) enzyme, encoded by the CYP17A1 gene, catalyzes 17a-hydroxylation and 17,20-lyase reactions essential for cortisol and sex steroid synthesis.
Yamei Li +5 more
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Frontiers in GeneticsBackgroundFamilial lecithin-cholesterol acyltransferase (LCAT) deficiency and α0-thalassemia are rare autosomal recessive disorders. Although both disease-causing genes reside on chromosome 16, their physical distance typically results in independent ...
Yinbing Zhu +5 more
doaj +1 more source
Summarizing studies using constitutive genetic deficiency to investigate behavioural influences of uptake 2 monoamine transporters. [PDF]
Basic Clin Pharmacol Toxicol, 2023 Weber BL, Beaver JN, Gilman TL.
europepmc +1 more source
Degradation mechanism of the von Willebrand factor A2 domain by nattokinase
FEBS Letters, EarlyView.Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto +3 more
wiley +1 more source
Glucose-6-phosphate-dehydrogenase deficiency as a risk factor in proliferative disorder development
, 2009 Glucose-6-phosphate dehydrogenase (G6PD) is an important site of metabolic control in the pentose phosphate pathway (PPP) which provides reducing power (NADPH) and pentose phosphates.
Claudia Abete +9 more
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Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India
Journal of Pharmacy and Bioallied SciencesBackground: : Genetic disorders, including sickle cell disease (SCD), thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency, pose significant health challenges in central India, especially among tribal populations.
Rakesh K. Jha +4 more
doaj +1 more source
Genetic Deficiency of Adipose Triglyceride Lipase Is Associated With a Novel Type of Podocytopathy. [PDF]
Kidney Int Rep, 2021 Nagasawa Y +7 more
europepmc +1 more source
The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome
FEBS Letters, EarlyView.This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley +1 more source
Genetikai kórképek hazai roma populatióban = Genetic disorders in Romani population
, 2006 1. Biotinidase defektusos újszülöttek szűrése a betegek molekuláris genetikai analysise magyar kaukazoid és roma populatioban.Eredmények:Hazai vizsgálatok: 58 családban vizsgáltuk a specifikus biotinidáz enzymaktivitást a kiszűrt enzymhiányos családokban,
Béres, Judit +4 more
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Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study [PDF]
, 2008 Hypopituitarism, the deficiency of one or more pituitary hormones, causes stunted growth and severe health problems. Understanding the etiology of pituitary hormone deficiencies is important for anticipation of clinical problems, for genetic counselling ...
Graaff, L.C.G. (Laura) de +1 more
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