Results 81 to 90 of about 2,184 (189)

Genetic factors for hematological traits in pigs

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract Complete blood count with differential is a critical diagnostic tool for evaluating the physiological and health status of individuals by analyzing white blood cells, red blood cells, and platelets. While extensively used in human medicine, the application of complete blood count biomarkers in pigs remain limited.
Jiahong Sun, Emil Ibragimov, Peter Karlskov‐Mortensen, Merete Fredholm   +3 more
wiley   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

Gene expression and functional annotation of the human and mouse choroid plexus epithelium [PDF]

, 2013
Background: The choroid plexus epithelium (CPE) is a lobed neuro-epithelial structure that forms the outer blood-brain barrier. The CPE protrudes into the brain ventricles and produces the cerebrospinal fluid (CSF), which is crucial for brain homeostasis.
Bergen, A.A.B. (Arthur), Brink, J.B. (Jacoline) ten, Essing, A.H.W. (Anke), Gorgels, T.G.M.F. (Theo), Jansonius, N.M. (Nomdo), Janssen, S.F. (Sarah), Spek, P.J. (Peter) van der, Spek, S.J.F. (Sophie) van der   +7 more
core   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source

MiR-501-3p Forms a Feedback Loop with FOS, MDFI, and MyoD to Regulate C2C12 Myogenesis

Cells, 2019
Skeletal muscle plays an essential role in maintaining body energy homeostasis and body flexibility. Loss of muscle mass leads to slower wound healing and recovery from illness, physical disability, poor quality of life, and higher health care costs. So,
Lianjie Hou, Linhui Zhu, Huaqin Li, Fangyi Jiang, Lingbo Cao, Ching Yuan Hu, Chong Wang   +6 more
doaj   +1 more source

DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape [PDF]

, 2014
Introduction: Transposable element (TE) derived sequences comprise half of our genome and DNA methylome, and are presumed densely methylated and inactive.
Cho, Stephanie, Costello, Joseph F., Farnham, Peggy J., Gascard, Philippe, Hirst, Martin, Hong, Chibo, Kadlecek, Theresa, Kamoh, Baljit, Lee, Hyung Joo, Li, Daofeng, Ligon, Keith L., Lowdon, Rebecca, Madden, Pamela A.F., Maire, Cecile L., Marra, Marco A., Moore, Richard, Mungall, Andrew J., O’Geen, Henriette, Sigaroudinia, Mahvash, Tam, Angela, Tlsty, Thea D., Wang, Ting, Weiss, Arthur, Xie, Mingchao, Xing, Xiaoyun, Zhang, Bo, Zhou, Xin   +26 more
core   +1 more source

Understanding formation processes of calcareous nephrolithiasis in renal interstitium and tubule lumen

Journal of Cellular and Molecular Medicine, Volume 28, Issue 7, April 2024.
Abstract Kidney stone, one of the oldest known diseases, has plagued humans for centuries, consistently imposing a heavy burden on patients and healthcare systems worldwide due to their high incidence and recurrence rates. Advancements in endoscopy, imaging, genetics, molecular biology and bioinformatics have led to a deeper and more comprehensive ...
Caitao Dong, Jiawei Zhou, Xiaozhe Su, Ziqi He, Qianlin Song, Chao Song, Hu Ke, Chuan Wang, Wenbiao Liao, Sixing Yang   +9 more
wiley   +1 more source

Characterization of Novel Promoter and Enhancer Elements of the Mouse Homologue of the Dent Disease Gene, CLCN5, Implicated in X-Linked Hereditary Nephrolithiasis [PDF]

Genomics, 1999
The murine homologue of the human chloride channel gene, CLCN5, defects in which are responsible for Dent disease, has been cloned and characterized. We isolated the entire coding region of mouse Clcn5 cDNA and approximately 45 kb of genomic sequence embracing the gene.
Tanaka, K., Fisher, S., Craig, I.
openaire   +4 more sources