Results 91 to 100 of about 7,281,051 (191)

Dietary Magnesium and Genetic Interactions in Diabetes and Related Risk Factors: A Brief Overview of Current Knowledge [PDF]

, 2013
Nutritional genomics has exploded in the last decade, yielding insights—both nutrigenomic and nutrigenetic—into the physiology of dietary interactions and our genes.
Djoussé, Luc, Hruby, Adela, McKeown, Nicola M., Song, Yiqing   +3 more
core   +2 more sources

Local Adaptation and Osmoregulatory Mechanisms of the Copepod Acartia tonsa Under Low Salinity Stress

Molecular Ecology, Volume 35, Issue 1, January 2026.
ABSTRACT Salinity—an essential factor shaping marine species distributions—is rapidly shifting due to global change, yet the mechanisms of salinity tolerance and adaptation remain poorly understood. We investigated local adaptation in the calanoid copepod Acartia tonsa, a broadly distributed marine species that thrives in the brackish Baltic Sea. Using
Alexandra Hahn, Jennifer C. Nascimento‐Schulze, Georgia Avgerinou, Till Bayer, Reid S. Brennan   +4 more
wiley   +1 more source

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis [PDF]

, 2011
Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism.
Se Eun Lee, Kyoung Hee Han, Yun Hye Jung, Hyun Kyung Lee, Hee Gyung Kang, Kyung Chul Moon, Il Soo Ha, Yong Choi, Hae Il Cheong   +8 more
core   +1 more source

Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association

Case Reports in Pediatrics, 2021
Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described.
Valeria Calcaterra, Giulia Roberto, Anna La Rocca, Beatrice Andrenacci, Federico Rossi, Gian Vincenzo Zuccotti, Valentina Fabiano   +6 more
doaj   +1 more source

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome [PDF]

Pediatric Research, 2005
Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure), the clinical findings were different: the boy, who also ...
BETTINELLI A, BORSA N, SYRÉN ML, MATTIELLO C, COVIELLO, DOMENICO, EDEFONTI A, GIANI M, TRAVI M, TEDESCHI S.   +8 more
openaire   +3 more sources

Screening Autophagy‐Related DKD Biomarkers Based on Bulk RNA and Single‐Cell Analysis and Uncovering Their Regulatory Mechanisms in DKD Renal Fibrosis

Journal of Diabetes Research, Volume 2026, Issue 1, 2026.
Background Diabetic kidney disease (DKD) is a common diabetes complication that increases global morbidity and mortality. To identify DKD biomarkers and explore autophagy‐related mechanisms to find potential therapeutic targets for DKD treatment. Methods After standardizing and analyzing the GSE142025 and Merged_GSE47183_GSE32591 datasets, DKD‐related ...
Qin Wang, Xiaoqi Li, Wen Ye, Qi Wang, Xianjin Bi, Hannah Wesley   +5 more
wiley   +1 more source

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]

, 2018
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander, Barandika, Olatz, Ezquerra-Inchausti, Maitane, Galdós, Marta, Garai-Aramburu, Gonzaga, Irigoyen, Cristina, López de Munain Arregui, Adolfo José, Ruiz-Ederra, Javier   +7 more
core   +4 more sources

Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome [PDF]

BMC Pediatrics, 2019
Following publication of the original article [1], the editor informed that error was found.
Yuanmei Kong, Ke Xu, Ke Yuan, Jianfang Zhu, Weiyue Gu, Li Liang, Chunlin Wang   +6 more
openaire   +2 more sources

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
core   +1 more source