Results 111 to 120 of about 3,318 (192)

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

Genomic progression for local invasion of cutaneous squamous cell carcinoma from the superficial to the deep portion

International Journal of Cancer, Volume 155, Issue 3, Page 532-544, 1 August 2024.
What's new? While the aggressive nature and high‐risk features of cutaneous squamous cell carcinoma have been identified, the mechanisms underlying local invasion and progression remain unclear. This study provides insights into the genomic landscape of cutaneous squamous cell carcinoma during progression from the epidermis to the deep dermis.
Hye Won Hwang, Hyun‐Tae Shin, Hye Young An, Ji Won Byun   +3 more
wiley   +1 more source

Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model [PDF]

, 2012
Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD).
Nakanuma, Yasuni, Ren, Xiang Shan, Sato, Yasunori   +2 more
core   +3 more sources

A 1-Mb BAC/PAC-Based Physical Map of the Autosomal Recessive Polycystic Kidney Disease Gene (PKHD1) Region on Chromosome 6

Genomics, 1999
The PKHD1 (polycystic kidney and hepatic disease 1) gene responsible for autosomal recessive polycystic kidney disease has been mapped to 6p21.1-p12 to an approximately 1-cM interval flanked by the markers D6S1714/D6S243 and D6S1024. We have developed a sequence-ready BAC/PAC-based contig map of this region as the next step for the positional cloning ...
Luiz F. Onuchic, Lisa M. Guay-Woodford, Ellis D. Avner, Stefan Somlo, Guanqing Wu, Lorenzo B. Santarina, Mehul Dixit, Klaus Zerres, Susanne Kneitz, Jong Hoon Park, Andrey N. Goncharuk, Tomohito Hayashi, Gregory G. Germino   +12 more
openaire   +3 more sources

Odevixibat as an adjunctive treatment for refractory pruritus in rare variants of cholestatic liver disease

JPGN Reports, Volume 5, Issue 3, Page 296-302, August 2024.
Abstract Objectives Odevixibat, a reversible ileal bile acid transport inhibitor, has been shown to reduce serum bile acids (sBA) and pruritus mostly in children with progressive familial intrahepatic cholestasis (PFIC) 1 and 2 in clinical trials and case reports.
Akshat Goel, Bethany Tucker, Lorena Soler Casale, Tassos Grammatikopoulos   +3 more
wiley   +1 more source

p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis

Cancer Biology & Medicine, 2019
Objective Polycystic kidney disease (PKD) is the major cause of kidney failure and mortality in humans. It has always been suspected that the development of cystic kidney disease shares features with tumorigenesis, although the evidence is unclear.
Haili Li, Yongjin Zhang, Juhua Dan, Ruoyu Zhou, Cui Li, Rong Li, Xiaoming Wu, Sanjay Kumar Singh, Jeffrey T. Chang, Julun Yang, Ying Luo   +10 more
doaj   +1 more source

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Egyptian Journal of Medical Human Genetics
Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6.
Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati   +5 more
doaj   +1 more source

An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia [PDF]

, 2010
Biliary atresia is a common form of paediatric liver disease, with progressive, inflammatory obliteration of the biliary tree, leading to liver failure early in life.
Blair-Reid, Sarah Alexandra
core  

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  

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]

, 2019
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M, Berauer, John‐Paul, Bezerra, Jorge A, Bull, Laura N, Chopra, Pankaj, Cutler, David J, Finegold, Milton J, Gibbs, Richard A, Guthery, Stephen L, Harpavat, Sanjiv, Hegde, Madhuri R, Kamath, Binita M, Karpen, Saul J, Loomes, Kathleen M, Magee, John C, Mezina, Anya I, Molleston, Jean P, Moore, Barry, Murray, Karen F, Muzny, Donna M, Network, for the Childhood Liver Disease Research, Okou, David T, Perlmutter, David H, Rajagopalan, Ramakrishnan, Rosenthal, Philip, Russo, Pierre, Sabo, Aniko, Sherker, Averell H, Sokol, Ronald J, Spinner, Nancy B, Squires, Robert H, Thompson, Richard J, Wang, Kasper S, Yandell, Mark   +33 more
core   +2 more sources