Results 71 to 80 of about 3,912 (211)

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

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

Novel compound heterozygous PKHD1 mutations in a Chinese ARPKD pedigree and analysis of genotype-phenotype correlations

Frontiers in Medicine
BackgroundAutosomal recessive polycystic kidney disease (ARPKD) is an inherited renal disorder characterized by multiple renal cysts. This study aimed to investigate the pathogenesis of PKHD1 gene variants in a Chinese ARPKD pedigree and elucidate the ...
Jie Zhao, Kang Yu, Yujuan Huang
doaj   +1 more source

Randomness and preserved patterns in cancer network

, 2014
Breast cancer has been reported to account for the maximum cases among all female cancers till date. In order to gain a deeper insight into the complexities of the disease, we analyze the breast cancer network and its normal counterpart at the proteomic ...
Jalan, Sarika, Menon, A. Vipin, Rai, Aparna   +2 more
core   +1 more source

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

Genomic landscape and evolution of arm aneuploidy in lung adenocarcinoma

Neoplasia: An International Journal for Oncology Research, 2021
For lung adenocarcinoma, arm aneuploidy landscape among primary and metastatic sites, and among different driver and frequently mutated gene groups have not been previously studied.
Beili Gao, Fujun Yang, Ming Han, Hua Bao, Yi Shen, Ran Cao, Xue Wu, Yang Shao, Changhong Liu, Zhe Zhang   +9 more
doaj   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Clinicopathological features and genetic variations in patients with polycystic liver disease [PDF]

精准医学杂志
Objective To investigate the clinicopathological features and gene mutation characteristics of patients with polycystic liver disease (PLD). Methods A retrospective analysis was performed for the clinical data of 12 PLD patients who attended Department ...
ZHOU Xueyan, WANG Ye, XING Rui, LI Yixian, HAN Xinyi, ZHAO Peng
doaj   +1 more source

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
core   +2 more sources

Pkhd1 [PDF]

, 2023
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality.
Barseghyan, Hayk, Bebok, Zsuzsa, Bhattacharya, Surajit, Boddu, Ravindra, Caldovic, Ljubica, Eicher, Eva M, Foreman, Oded, Gordish-Dressman, Heather, Guay-Woodford, Lisa M, Harafuji, Naoe, Yang, Chaozhe, Yu, Weiying   +11 more
core   +2 more sources