Results 91 to 100 of about 54,094 (256)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +1 more source

CRISPR-Cas9 system in autosomal dominant polycystic kidney disease: a comprehensive review [PDF]

Childhood Kidney Diseases
Genetic kidney diseases are caused by mutations in specific genes that significantly affect kidney development and function. Although the underlying pathogenic genes of many kidney diseases have been identified, an understanding of their mechanisms and ...
Seungyeon Kang, Se Jin Park, Min Ho Lee, Andreas Kronbichler, Jae Il Shin   +4 more
doaj   +1 more source

A Primer on Kidney Transplantation: Anatomy of the Shortage [PDF]

, 2014
Kidneys are unique among the solid organs due to the combination of the low risk of living donation, the feasibility of sustaining life on dialysis for several years following kidney failure, and Medicare coverage of dialysis and transplantation for ...
Cook, Philip J., Krawiec, Kimberly D.
core   +2 more sources

Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium. [PDF]

, 2013
BACKGROUND: The primary cilium coordinates signalling in development, health and disease. Previously we have shown that the cilium is essential for the anabolic response to loading and the inflammatory response to interleukin-1β (IL-1β).
AC Lin, AK Wann, AK Wann, AM Malone, AR Sartori-Cintra, BL Thoms, BL Thoms, CA Clement, CA Clement, CF Chang, CJ Haycraft, CJ Haycraft, CR Thoma, D Kong, D Zhu, DA Hoey, DM Katschinski, E Verghese, EN Pugacheva, F Oeffner, GJ Pazour, HA Praetorius, J Kim, JB Catterall, JC Kim, JE Bohonowych, JE Lafont, JF Reiter, JH Moyer, JH Ryu, JM Gerdes, JR Marszalek, JT Eggenschwiler, KC Corbit, KC Corbit, L Schneider, M Windheim, MA Lancaster, MF Bijlsma, NV Prodromou, P Jaakkola, PD Taulman, PV Tran, R Rohatgi, RD Thornton, S Abdul-Majeed, S Kim, S Massinen, S Murakami, S Proulx-Bonneau, S Yang, SH Low, SM Nauli, SN Greer, SR McGlashan, SR McGlashan, T Caspary, TY Besschetnova, X Xue, Y Li, YJ Jung   +60 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

PKR activation-induced mitochondrial dysfunction in HIV-transgenic mice with nephropathy

eLife
HIV disease remains prevalent in the USA and chronic kidney disease remains a major cause of morbidity in HIV-1-positive patients. Host double-stranded RNA (dsRNA)-activated protein kinase (PKR) is a sensor for viral dsRNA, including HIV-1.
Teruhiko Yoshida, Khun Zaw Latt, Avi Z Rosenberg, Briana A Santo, Komuraiah Myakala, Yu Ishimoto, Yongmei Zhao, Shashi Shrivastav, Bryce A Jones, Xiaoping Yang, Xiaoxin X Wang, Vincent M Tutino, Pinaki Sarder, Moshe Levi, Koji Okamoto, Cheryl A Winkler, Jeffrey B Kopp   +16 more
doaj   +1 more source

Autophagy in Chronic Kidney Diseases

Cells, 2019
Autophagy is a cellular recycling process involving self-degradation and reconstruction of damaged organelles and proteins. Current evidence suggests that autophagy is critical in kidney physiology and homeostasis.
Tien-An Lin, Victor Chien-Chia Wu, Chao-Yung Wang   +2 more
doaj   +1 more source

New rat model that phenotypically resembles autosomal recessive polycystic kidney disease [PDF]

, 2000
Numerous murine models of polycystic kidney disease (PKD) have been described. While mouse models are particularly well suited for investigating the molecular pathogenesis of PKD, rats are well established as an experimental
Dokkum, R.P.E. (Richard) van, Goedbloed, M.A. (Miriam), Guay-Woodford, L.M., Herck, H.V., Hesselink, D.A. (Dennis), Nauta, J. (Jeroen), Visser, P. (Pim), Willemsen, R. (Rob), Wright, C.J.   +8 more
core   +1 more source

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source