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在“Elsevier电子期刊”中，命中：27条，耗时：小于0.01 秒

1.An Ashkenazi founder mutation in the PKHD1 gene

作者：Adina Quint^a ; Michal Sagi^a ; Shai Carmi^b ; Hagit Daum^a ; Michal Macarov^a ; Ziva Ben Neriah^a ; Vardiela Meiner^a ; Orly Elpeleg^a ; Israela Lerer^a ; ^{lereris@hadassah.org.il" class="auth_mail" title="E-mail the corresponding author}

关键词：ARPKD ; Ashkenazi ; Founder mutation ; PKHD1 ; c.3761_3762delCCinsG

刊名：European Journal of Medical Genetics

出版年：2016

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

作者：Burhan M. Edrees^a ; ^g ; ¹ ; Mohammad Athar^a ; ^b ; ¹ ; ^{mabedar@uqu.edu.sa} ; Zainularifeen Abduljaleel^a ; ^b ; ^{zaabduljaleel@uqu.edu.sa} ; Faisal A Al-Allaf^a ; ^b ; ^c ; ¹ ; ^{fallaf@uqu.edu.sa} ; Mohiuddin M. Taher^a ; ^b ; Wajahatullah Khan^d ; Abdellatif Bouazzaoui^a ; ^b ; Naffaa Al-Harbi^e ; Ramzia Safar^f ; Howaida Al-Edressi^f ; Khawala Alansary^g ; Abulkareem Anazi^g ; Naji Altayeb^g ; Muawia A. Ahmed^h

关键词：Polycystic kidney and hepatic disease 1 (PKHD1) ; Autosomal recessive polycystic kidney disease (ARPKD) ; Next generation sequencing (NGS) ; Phylogenetic ; Pathogenicity prediction

刊名：Genomics Data

出版年：2016

3.Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease

作者：Burhan M. Edrees^a ; ^g ; ¹ ; Mohammad Athar^a ; ^b ; ¹ ; ^{athar80@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Faisal A. Al-Allaf^a ; ^b ; ^c ; ¹ ; ^{faallaf@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author} ; Mohiuddin M. Taher^a ; ^b ; Wajahatullah Khan^d ; Abdellatif Bouazzaoui^a ; ^b ; Naffaa Al-Harbi^e ; Ramzia Safar^f ; Howaida Al-Edressi^f ; Khawala Alansary^g ; Abulkareem Anazi^g ; Naji Altayeb^g ; Muawia A. Ahmed^h ; Zainularifeen Abduljaleel^a ; ^b ; ¹ ; ^{zainulbio@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{zaabduljaleel@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author}

关键词：ARPKD ; autosomal recessive polycystic kidney disease ; ADPKD ; Autosomal Dominant Polycystic Kidney Disease ; nsSNPs ; non-synonymous SNPs ; SIFT ; Sorting Intolerant From Tolerant ; PolyPhen2 ; Polymorphism Phenotyping ; NGS ; Next generation sequencing ; ISP ; Ion Sphere Particles ; BAM ; binary alignment mapping ; hg19 ; reference genome ; BWA ; Burrows-Wheeler Aligner ; SAM ; sequence alignment mapping ; PCR ; polymerase chain reaction ; SOAP ; Short Oligonucleotide Analysis Package ; GO ; Gene-Ontology

刊名：Gene

出版年：2016

4.Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing

作者：S.M. Herbst^a ; ¹ ; ^{saskia.herbst@ukr.de" class="auth_mail" title="E-mail the corresponding author} ; S. Schirmer^a ; ¹ ; C. Posovszky^c ; F. Jochum^d ; T. Rö ; dl^a ; J.A. Schroeder^f ; T.F. Barth^e ; U. Hehr^a ; M. Melter^b ; J. Vermehren^b

关键词：Next generation sequencing ; Infantile cholestasis ; PFIC ; Niemann&ndash ; Pick-syndrome ; PKHD1 ; Hepatic fibrosis ; Massive parallel sequencing

刊名：Molecular and Cellular Probes

出版年：2015

5.Cystogenesis in ARPKD results from increased apoptosis in collecting duct epithelial cells of Pkhd1 mutant kidneys

作者：Bo Hu ; Xiusheng He ; Ao Li ; Qingchao Qiu ; Cunxi Li ; Dan Liang ; Ping Zhao ; Jie Ma ; Robert J. Coffey ; Qimin Zhan ; Guanqing Wu

关键词：Pkhd1 ; Fibrocystin ; ARPKD ; Apoptosis ; Proliferation

刊名：Experimental Cell Research

出版年：2011

6.Down-regulation of PKHD1 induces cell apoptosis through PI3K and NF-κB pathways

作者：Liping Sun^a ; Shixuan Wang^b ; Chaofeng Hu^c ; Xinzhou Zhang^a ; ^{slp08@126.com}

关键词：PI3K/Akt pathway ; Apoptosis ; LY294002 ; NF-κB ; PKHD1

刊名：Experimental Cell Research

出版年：2011

7.PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

作者：Meral Gunay-Aygun ; Maya Tuchman ; Esperanza Font-Montgomery ; Linda Lukose ; Hailey Edwards ; Angelica Garcia ; Surasawadee Ausavarat ; Shira G. Ziegler ; Katie Piwnica-Worms ; Joy Bryant ; Isa Bernardini ; Rox

关键词：PKHD1 ; Autosomal recessive polycystic kidney disease ; Congenital hepatic fibrosis ; DNA sequencing ; Missense variant ; Pathogenicity prediction

刊名：Molecular Genetics and Metabolism

出版年：2010

8.Steviol retards renal cyst growth through reduction of CFTR expression and inhibition of epithelial cell proliferation in a mouse model of polycystic kidney disease

作者：Chaowalit Yuajit^a ; ^d ; Chatchai Muanprasat^a ; ^b ; Anna-Rachel Gallagher^d ; Sorin V. Fedeles^d ; Suticha Kittayaruksakul^a ; Sureeporn Homvisasevongsa^c ; Stefan Somlo^d ; ^{Stefan.somlo@yale.edu" class="auth_mail} ; Varanuj Chatsudthipong^a ; ^b ; ^{varanuj.cha@mahidol.ac.th" class="auth_mail}

关键词：Steviol ; CFTR ; AMPK ; Renal cystogenesis ; mTOR

刊名：Biochemical Pharmacology

出版年：1 April, 2014

9.Inhibition of PKHD1

作者：Rong Zheng ; Li Wang ; Junming Fan ; Qin Zhou

关键词：PKHD1 ; Rapamycin ; mTOR ; HIF-1α ; VEGF

刊名：Cell Biology International

出版年：2009

10.Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

作者：Meral ; Gunay-Aygun^a ; ; ^b ; ; ^{mgaygun@mail.nih.gov} ; Baris I. ; Turkbey^c ; Joy ; Bryant^a ; Kailash T. ; Daryanani^d ; Maya Tuchman ; Gerstein^a ; Katie ; Piwnica-Worms^a ; Peter ; Choyke^c ; Theo ; Heller^e ; William A. ; Gahl^a ; ; ^b

关键词：Autosomal recessive polycystic kidney disease ; Congenital hepatic fibrosis ; PKHD1 ; Polycytsic liver disease ; Nephrocalcinosis ; Medullary sponge kidney

刊名：Molecular Genetics and Metabolism

出版年：2011

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