Results 71 to 80 of about 3,318 (192)

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Italian Journal of Pediatrics, 2020
Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12.
Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro   +8 more
doaj   +1 more source

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

PLoS ONE, 2023
Background and aimGene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.Patients and methodsBoth paediatric (n = 33) and adult (
Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa   +23 more
doaj   +1 more source

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology

Scientific Reports, 2017
Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hypertension, and ...
Jun-ya Kaimori, Cheng-Chao Lin, Patricia Outeda, Miguel A. Garcia-Gonzalez, Luis F. Menezes, Erum A. Hartung, Ao Li, Guanqing Wu, Hideaki Fujita, Yasunori Sato, Yasuni Nakanuma, Satoko Yamamoto, Naotsugu Ichimaru, Shiro Takahara, Yoshitaka Isaka, Terry Watnick, Luiz F. Onuchic, Lisa M. Guay-Woodford, Gregory G. Germino   +18 more
doaj   +1 more source

Empowering precision medicine through high performance computing clusters [PDF]

, 2018
The role of High Performance Computing (HPC) in Medicine is greatly increase in these last years, moving from basic research to the clinics. With the advent of Next Generation Sequencing (NGS) technologies, diverse areas of human health have been ...
Castrignanò Tiziana, Chillemi Giovanni, Parisi Valerio   +2 more
core   +3 more sources

Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes

Genomics Data, 2016
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing.
Burhan M. Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M. Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A. Ahmed   +13 more
doaj   +1 more source

Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats [PDF]

, 2004
Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats.BackgroundAdvances in the understanding of cystogenesis, identification of the PKHD1 gene and availability of a rat model (the PCK rat) caused by a Pkhd1 mutation ...
Avner, Ellis D., Frost, Philip, Harris, Peter C., Qian, Q.I., Sweeney, William E., Torres, Vicente E., Wang, Xiaofang   +6 more
core   +1 more source

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Orphanet Journal of Rare Diseases, 2022
Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex.
Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner   +16 more
doaj   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Quality of DNA extracted from formalin-fixed, paraffin-embedded canine tissues. [PDF]

, 2020
Veterinary pathology tissue banks are valuable resources for genetic studies. However, limited data exist as to whether quality DNA can be extracted from these tissues for use in canine genotyping studies.
Bannasch, Danika L, Dear, Jonathan D, Sykes, Jane E   +2 more
core   +1 more source

The transmembrane protein fibrocystin/polyductin regulates cell mechanics and cell motility [PDF]

, 2023
Polycystic kidney disease is a disorder that leads to fluid filled cysts that replace normal renal tubes. During the process of cellular development and in the progression of the diseases, fibrocystin can lead to impaired organ formation and even cause
Fischer, Tony, Mierke, Claudia Tanja, Puder, Stefanie   +2 more
core   +1 more source