Hyperosmolality activates polycystin-2 and TRPM4 in renal primary cilium DOI
Steven J. Kleene

Pflügers Archiv - European Journal of Physiology, Год журнала: 2024, Номер 477(3), С. 479 - 494

Опубликована: Дек. 17, 2024

Язык: Английский

Genetic Variants Associated with Hypertension Risk: Progress and Implications DOI Creative Commons
David Curtis

Pulse, Год журнала: 2024, Номер 12(1), С. 19 - 26

Опубликована: Янв. 1, 2024

<b><i>Background:</i></b> Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary utilised common and latterly rare genetic in attempts to elucidate the contribution risk of hypertension. <b><i>Summary:</i></b> Using genome-wide association studies (GWASs), associations hundreds reported, implicating thousands genes. Individual small effect sizes cumulatively account for around 6% risk. The variant signal is enriched relevant tissues physiological processes, while some are associated traits expected impacts risk, such fruit intake, BMI, or time watching television. using obtained from exome sequence data implicated number genes which impaired function has moderate effects blood pressure and/or Notably, impair elements guanylate cyclase activation, stimulated by either natriuretic hormones nitric oxide, increase Conversely, impairing dopamine beta-hydroxylase renin production lower pressure. Variants definite can be designated remain extremely again make only overall Although these results interest, it not clear that they provide radical new insights identify drug targets were known. Nor does seem testing could useful terms quantifying disease guiding treatment. <b><i>Key Messages:</i></b> Research increased our knowledge about relationship between naturally occurring variation serve confirm understanding underlying physiology, their value potentially leading practical advances management appears questionable.

Язык: Английский

Процитировано

5

Autosomal Dominant Polycystic Kidney Disease DOI
Maria Lourdes Gonzalez Suarez, Silvia Titan, Neera K. Dahl

и другие.

Advances in Kidney Disease and Health, Год журнала: 2024, Номер 31(6), С. 496 - 503

Опубликована: Ноя. 1, 2024

Язык: Английский

Процитировано

4

Plasma proteome fingerprint in kidney diseases DOI Creative Commons

Kirill S. Nikolsky,

Arthur T. Kopylov,

Valeriya I. Nakhod

и другие.

Frontiers in Molecular Biosciences, Год журнала: 2025, Номер 11

Опубликована: Янв. 17, 2025

Kidney diseases pose a serious healthcare problem because of their high prevalence, worsening patients' quality life, and mortality. Patients with kidney are often asymptomatic until disease progression starts. Expensive renal replacement therapy options, such as dialysis or transplant, required for end-stage disease. Early diagnosis pathology is crucial slowing down curbing further damage. This study aimed to analyze the features protein composition blood plasma in patients most common pathologies: calculus, cyst, cancer. The involved 75 subjects. Proteins associated pathologies (CFB, SERPINA3, HPX, HRG, SERPING1, HBB, ORM2, CP) were proposed. These proteins important participants complement coagulation cascade activation lipid metabolism. revealed phosphorylated proteoforms C4A/C4B, F2, APOB, TTR, NRAP) identified. For them, modification sites mapped on 3D models, potential role formation complexes native partner was assessed. demonstrates that selected have similar proteomic profile, can be classified into groups an accuracy (70-80)%.

Язык: Английский

Процитировано

0

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia DOI Creative Commons
Patrícia Quelhas,

D. Palma Morgado,

Jorge Luiz dos Santos

и другие.

Cells, Год журнала: 2025, Номер 14(8), С. 596 - 596

Опубликована: Апрель 15, 2025

Ciliopathies are disorders that affect primary or secondary cellular cilia structures associated with ciliary function. Primary (PC) essential for metabolic regulation and embryonic development, pathogenic variants in cilia-related genes linked to several pediatric conditions, including renal-hepatic diseases congenital defects. Biliary atresia (BA) is a progressive infantile cholangiopathy the leading cause of liver transplantation. Although exact etiology BA remains unclear, evidence suggests multifactorial pathogenesis influenced by both genetic environmental factors. Patients laterality defects exhibit ciliopathies. Interestingly, even isolated without extrahepatic anomalies presents morphological functional abnormalities, suggesting triggers may disrupt Among these factors, hypoxia has emerged as potential modulator this dysfunction. Hypoxia-inducible factor 1-alpha (HIF-1α) plays central role hepatic responses oxygen deprivation, influencing bile duct remodeling fibrosis, which key processes progression. This review explores crosstalk between ciliopathies, focus on BA. It discusses molecular mechanisms through drive disease progression examines therapeutic targeting hypoxia-related pathways. Understanding how deprivation influences function open new avenues treating biliary ciliopathies improving patient outcomes.

Язык: Английский

Процитировано

0

Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype DOI Creative Commons
Whitney S. Thompson, Chuan Chen, Hana Yang

и другие.

Kidney International Reports, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Язык: Английский

Процитировано

0

Nanomedical Strategies for Kidney Disease: Diagnostic Innovations and Therapeutic Advancements DOI
Yao Feng, Weiqi Gao,

Limeng Li

и другие.

Advanced Healthcare Materials, Год журнала: 2025, Номер unknown

Опубликована: Май 23, 2025

Abstract Kidney diseases, posing significant global public health challenges due to their complex pathogenesis and diagnostic/therapeutic difficulties, have seen emerging advancements through nanomedicine. In diagnostics, nanoparticles leverage unique physicochemical properties enhance imaging precision. Superparamagnetic iron oxide improve magnetic resonance sensitivity by amplifying T 2 ‐weighted contrast, while microbubbles/nanobubbles ultrasound resolution via signal reflection. Quantum dots gold optimize photoacoustic with superior fluorescence photostability. Therapeutically, nanoparticle‐based drug delivery systems demonstrate targeted delivery, reduced systemic toxicity, improved stability bioavailability in preclinical studies. Nanocarrier‐integrated stem cell gene therapies further show potential repairing renal cells mitigating kidney injury. This review systematically examines nanomedicine's dual diagnostic therapeutic roles compares strengths limitations of various nanodelivery platforms, addresses current clinical translation. By exploring novel nanotechnology‐driven strategies, it aims guide future research toward effective, tailored for disease management.

Язык: Английский

Процитировано

0

A case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome DOI Open Access
Lingling Liu, Yuan Huang, Feng Fang

и другие.

Translational Pediatrics, Год журнала: 2024, Номер 13(4), С. 682 - 689

Опубликована: Апрель 1, 2024

Background: Caroli syndrome or disease is characterized by focal dilation of the intrahepatic bile ducts, with without congenital liver fibrosis. Mutations in WDR19 gene can result nephropathy, an autosomal recessive cystic kidney disease. However, this genetic mutation clinically associated We hypothesize that mutations may contribute to extrarenal phenotypes such as syndrome.

Язык: Английский

Процитировано

2

Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept DOI
Guillaume Dorval, Gérald Le Gac, Vincent Morinière

и другие.

Kidney International, Год журнала: 2024, Номер 106(3), С. 532 - 535

Опубликована: Июнь 27, 2024

Язык: Английский

Процитировано

1

Aortic Dilatation in Children and Young People With ADPKD DOI Creative Commons
Alexandra Savis, Emily Haseler,

Hayley Beardsley

и другие.

Kidney International Reports, Год журнала: 2024, Номер 9(5), С. 1210 - 1219

Опубликована: Фев. 9, 2024

IntroductionAortic root dilatation is a reported cardiovascular sequela seen in children and young people (CYP) with chronic kidney disease (CKD), but has yet to be described those Autosomal dominant polycystic (ADPKD).MethodsSingle centre, cross-sectional study dedicated ADPKD clinic. Echocardiograms were evaluated for the presence of [defined by z-score ≥2 (≥99th percentile) standard deviations from mean] at four standardised locations: aortic valve annulus, Sinuses Valsalva (SoV), sinotubular junction (STJ) ascending aorta. Measurements compared control group assess prevalence, severity determinants dilatation.Results97 children, median age [IQR] 9.3 [6.1, 13.6] years 19 controls without or other CKD. The prevalence ranged 5.2-17% ADPKD, depending on anatomical location no identified group. In multivariable regression, was strongly positively associated cyst burden annulus SoV (β= 0.42 β=0.39, both p<0.001), -0.26, p=0.02), SBP -0.20, p=0.04) LVMI STJ 0.24, p=0.02 β= 0.25, p=0.03 respectively) following adjustment age, sex, BMI z-score, eGFR, LVMI.ConclusionsOur data suggests increased CYP controls. Further studies are needed understand pathogenesis its contribution high morbidity ADPKD.

Язык: Английский

Процитировано

0

Hyperosmolality activates polycystin-2 and TRPM4 in renal primary cilium DOI
Steven J. Kleene

Pflügers Archiv - European Journal of Physiology, Год журнала: 2024, Номер 477(3), С. 479 - 494

Опубликована: Дек. 17, 2024

Язык: Английский

Процитировано

0