Results 81 to 90 of about 2,467 (196)

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes

Frontiers in Genetics, 2022
Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and
Manal Alaamery, Manal Alaamery, Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Salam Massadeh, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nora Aljawini, Nora Aljawini, Nour Albesher, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari, Abdullah Sayyari, Abdullah Sayyari   +25 more
doaj   +1 more source

Complementary Roles of DNA Methylation and miRNA in Regulating Gene Expression Under Environmental Stress in Biological Invasions

Evolutionary Applications, Volume 18, Issue 11, November 2025.
ABSTRACT Biological invasions significantly threaten global biodiversity and disrupt the stability of ecosystems worldwide. Effective responses to environmental stressors are crucial for invasion success; however, the underlying epigenetic regulatory mechanisms remain poorly understood, especially regarding the interplay among multiple regulatory ...
Weijie Yan, Ruiying Fu, Xuena Huang, Aibin Zhan   +3 more
wiley   +1 more source

ClC-5: role in endocytosis in the proximal tubule [PDF]

, 2005
The proper functioning of the Cl- channel, ClC-5, is essential for the uptake of low molecular mass proteins through receptor-mediated endocytosis in the proximal tubule.
Cai, Hui, Cebotaru, Liudmila, Donowitz, Mark, Guggino, Sandra E., Guggino, William B., Hryciw, Deanne H., Wang, Yinghong, Weinman, Edward J.   +7 more
core   +1 more source

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

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

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

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

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Psoriasis is a chronic inflammatory dermatosis with complex genetic basis supported by family investigation. Renal involvement in psoriasis is sparsely studied and its pathogenesis is still unclear.
Lei Wei, Ye Fang, Guanghai Cao, Shufeng Zhang, Ming Tian, Qian Shen, Hong Xu, Cuihua Liu, Jia Rao   +8 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