Results 101 to 110 of about 2,061,243 (253)

Les WNK kinases et les effets de WNK3 sur l'activité du canal ENaC [PDF]

, 2014
Les WNK kinases sont une famille de sérine/thréonine protéines kinases, des enzymes capables de phosphoryler le résidu OH de sérine ou thréonine. Quatre membres (WNK 1-4) ont été identifiés, largement distribués dans les cellules et tissus des ...
BATTIG, F.
core  

Gitelman syndrome [PDF]

, 2013
Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia.
Costa, F, Cotovio, P, Oliveira, N, Silva, C   +3 more
core   +1 more source

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Breaking Free From MCHC Interferences? French‐Speaking Cellular Haematology Group (GFHC) Review of Causes, Rising Trends and Practical Solutions

International Journal of Laboratory Hematology, Volume 47, Issue 5, Page 798-807, October 2025.
ABSTRACT Mean corpuscular haemoglobin concentration (MCHC) is determined by the ratio of haemoglobin concentration to haematocrit. Managing increased MCHC presents significant challenges, mainly due to variations in analytical methods and pathophysiological conditions.
Sandrine Girard, Yaël Berda‐Haddad, Chantal Brouzes, Bouchra Badaoui, Agathe Boussaroque, Alexandre Janel, Bernard Chatelain, Véronique Baccini   +7 more
wiley   +1 more source

Bartter syndrome: An infrequent tubulopathy of prenatal onset.

Revista chilena de pediatría, 2019
INTRODUCTION Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic ...
Carmen Luz Gómez de la F, J. Novoa P, Nury Caviedes R   +2 more
semanticscholar   +1 more source

Diseases associated with calcium-sensing receptor [PDF]

, 2017
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion.
A. Jannin, C. Vahe, K. Benomar, L. Coppin, M. C. Vantyghem, M. F. Odou, S. Espiard   +6 more
core   +1 more source

Primary renal potassium wasting syndrome in a juvenile domestic medium‐hair cat secondary to an atypical distal renal tubular disorder of undetermined molecular origin

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract Renal potassium wasting syndromes, such as Gitelman's syndrome (GS), are well documented in humans but rarely reported in veterinary medicine. This case describes a 6‐month‐old domestic medium‐hair cat presenting with chronic hypokalaemia, polyuria and polydipsia. Diagnostic evaluation revealed hypokalaemia, metabolic alkalosis, hypochloraemia
Kyle L. Granger Jr., Vivian Ojeda‐Rosenthal, Mei Lun Mui   +2 more
wiley   +1 more source

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report [PDF]

, 2018
Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117)
Bottillo, I, Lang, Y, Lu, J, Paiardini, A, Shao, L, Zhao, X   +5 more
core   +1 more source

Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report

Nephrology, Volume 30, Issue 9, September 2025.
ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the NaCl cotransporter in the distal convoluted tubule, and for which more than 500 ...
Patricia Tomás‐Simó, Antonio Sierra‐Rivera, Ana Checa‐Ros, Raquel Rodríguez‐López, Antonio Galán‐Serrano, Luis D'Marco   +5 more
wiley   +1 more source

Dialysis Vintage and Symptom Burden in Hemodialysis: A Comprehensive Analysis

Nursing &Health Sciences, Volume 27, Issue 3, September 2025.
ABSTRACT End‐stage renal disease (ESRD) requires lifelong maintenance hemodialysis (MHD), and patients commonly experience a high symptom burden that affects their quality of life. This study explores the impact of dialysis vintage on symptom burden and quality of life in ESRD patients undergoing MHD.
Shanshan Yan, Ya Wang, Zhenzhen Li, Duo Wang, Dongfang Yao   +4 more
wiley   +1 more source