Results 101 to 110 of about 2,863,419 (210)

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

Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α0-Thalassemia

Frontiers in Genetics
BackgroundFamilial 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, Chunya Liu, Wenxun Tang, Yi Jiang, Lingling Mao, Min Huang   +5 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, Okumura T, Hara Y, Kondo T, Hasegawa M, Ikeda Y, Murohara T, Hirano KI.   +7 more
europepmc   +1 more source

Comprehensive Neonatal Screening for Genetic Disorders in Tribal Populations of Central India

Journal of Pharmacy and Bioallied Sciences
Background: : 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, Meghali Kaple, Ranjit S. Ambad, Archana Dhok, Ashsish Anjankar   +4 more
doaj   +1 more source

APP Genetic Deficiency Alters Intracellular Ca²⁺ Homeostasis and Delays Axonal Degeneration in Dorsal Root Ganglion Sensory Neurons. [PDF]

J Neurosci, 2022
de León A, Gibon J, Barker PA.
europepmc   +1 more source

Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease

, 2012
The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism.
L. Calabresi, Monica Gomaraschi, G. Franceschini, Laura Calabresi, S. Simonelli, M. Gomaraschi, Sara Simonelli, Guido Franceschini   +7 more
core   +1 more source

Puzzling cases of pediatric microcytosis

Pediatric Hematology Oncology Journal
Background: Iron deficiency anemia is a common diagnosis in the pediatric age group and often attributed to poor diet, excessive milk intake, or blood loss.
Alyssa Wilder, Nadia Cheek, Julie Voeller, Timothy C. Griffin, Latha Prasannan   +4 more
doaj   +1 more source

Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor. [PDF]

J Clin Invest, 2022
Godsel LM, Roth-Carter QR, Koetsier JL, Tsoi LC, Huffine AL, Broussard JA, Fitz GN, Lloyd SM, Kweon J, Burks HE, Hegazy M, Amagai S, Harms PW, Xing X, Kirma J, Johnson JL, Urciuoli G, Doglio LT, Swindell WR, Awatramani R, Sprecher E, Bao X, Cohen-Barak E, Missero C, Gudjonsson JE, Green KJ.   +25 more
europepmc   +1 more source

Fecal microbiota transplantation ameliorates atherosclerosis in mice with C1q/TNF-related protein 9 genetic deficiency. [PDF]

Exp Mol Med, 2022
Kim ES, Yoon BH, Lee SM, Choi M, Kim EH, Lee BW, Kim SY, Pack CG, Sung YH, Baek IJ, Jung CH, Kim TB, Jeong JY, Ha CH.   +13 more
europepmc   +1 more source

Major differences in bleeding symptoms between factor VII deficiency and haemophilia B

, 2009
SUMMARY BACKGROUND: The autosomally-inherited factor VII (FVII) deficiency and X-linked hemophilia B offer an attractive model to investigate whether reduced levels of FVII and FIX, acting in the initiation and amplification of coagulation respectively ...
J. Ingerslev, E. Santagostino, J. F. Schved, International Factor VII Deficiency Study Group, G. Mariani, M. Lapecorella, A. Dolce, M. Pinotti, A. Batorova, F. Bernardi, A. D. Shapiro, F. Peyvandi   +11 more
core   +1 more source