Results 81 to 90 of about 7,332 (203)

A single-nucleus RNA-sequencing pipeline to decipher the molecular anatomy and pathophysiology of human kidneys [PDF]

, 2019
Defining cellular and molecular identities within the kidney is necessary to understand its organization and function in health and disease. Here we demonstrate a reproducible method with minimal artifacts for single-nucleus Droplet-based RNA sequencing (
Chen, Song, Gao, Derek, Gaut, Joseph, Hoshi, Masato, Jain, Sanjay, Kim, Eric H., Knoten, Amanda, Lake, Blue B., Plongthongkum, Nongluk, Salamon, Diane, Venkatesh, Ramakrishna, Vijayan, Anitha, Zhang, Kun   +12 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

The sodium chloride cotransporter SLC12A3: new roles in sodium, potassium, and blood pressure regulation [PDF]

Pflügers Archiv - European Journal of Physiology, 2013
SLC12A3 encodes the thiazide-sensitive sodium chloride cotransporter (NCC), which is primarily expressed in the kidney, but also in intestine and bone. In the kidney, NCC is located in the apical plasma membrane of epithelial cells in the distal convoluted tubule.
Moes Arthur D., van der Lubbe Nils, Zietse Robert, Loffing Johannes, Hoorn Ewout J.   +4 more
openaire   +2 more sources

Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

Reumatismo, 2020
Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular,
E. Conticini, A. Negro, L. Magnani, R. Ugolini, B. Atienza-Mateo, B. Frediani, C. Salvarani   +6 more
doaj   +1 more source

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

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

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

Single‐cell spatial transcriptomics reveals potential molecular mechanisms of Abelmoschus manihot (L.) medic in treating diabetic kidney disease

iMeta, Volume 4, Issue 6, December 2025.
A clinical study reported that Abelmoschus manihot (L.) Medic (A. manihot), in the form of Huangkui capsule (HKC), combined with irbesartan (IRB) is an effective therapy for patients with diabetic kidney disease (DKD). The bioactive components of HKC are total flavones extracted from A. manihot (TFA).
Chenhua Wu, Haitao Tang, Yihong Yu, Yuhui Song, Haitao Ge, Yiming Shen, Jie Wu, Harvest F. Gu   +7 more
wiley   +1 more source

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

MyGene2 automated match report: SLC12A3

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire   +1 more source