Results 91 to 100 of about 2,524,364 (180)

The Enigmatic Teratoma: Tracing Tissue Origins Through Methylation Profiling

Stem Cells International, Volume 2026, Issue 1, 2026.
Purpose Mature cystic teratomas of the ovary can contain skin, hair, muscle, and bone and are usually found in women of reproductive age. Elucidating epigenomic aberrations in these teratomas may result in a better understanding of their stepwise developmental processes and molecular bases. Methods Here, we analyzed the methylation statuses of promoter
Wen-Chung Wang, Chen-Yun Kuo, Tai-Cheng Hou, Yen-Chein Lai, Harleen Khatra   +4 more
wiley   +1 more source

Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin.

, 2011
Item does not contain fulltextMutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). Unfortunately, the lack of specific antibodies to the mouse protein impairs the study of splicing, post ...
Deursen, J.M.A. van, Marie C. Hogan, Jan M. van Deursen, Huang, B.Q., Vicente E. Torres, Ming Li, Hogan, M.C., Bing Q. Huang, Bakeberg, J.L., Rachaneekorn Tammachote, Tuan, H.F., Tammachote, R., Christopher J. Ward, Ward, C.J., Harris, P.C., Jason L. Bakeberg, Peter C. Harris, John R. Woollard, Han-Fang Tuan, Woollard, J.R., Torres, V.E., Wu, Y., Li, M., Yanhong Wu   +23 more
core   +1 more source

Table_1_Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes.XLSX

, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Huijun Shen (10717623), Zhihong Lu (349154), Jie Xu (34477), Jingjing Wang (140791), Qing Ye (90197), Chengxian Xu (7143806), Chenxi Yang (1718218), Enyin Lai (11842346), Yuchen Zhang (524816), Jianhua Mao (447450), Pingping Jiang (307787), Lingxiao Tong (11842343)   +11 more
core   +1 more source

Multi-omics analysis of host-microbiome interactions in a mouse model of congenital hepatic fibrosis

BMC Microbiology
Background Congenital hepatic fibrosis (CHF) caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene is a rare genetic disorder with poorly understood pathogenesis.
Mengfan Jiao, Ye Sun, Zixing Dai, Xiaoxue Hou, Xizhi Yin, Qingling Chen, Rui Liu, Yuwen Li, Chuanlong Zhu   +8 more
doaj   +1 more source

Analysis of the expression pattern of the PKHD1 gene product, mutated in autossomal recessive polycystic kidney disease

, 2004
O gene PKHD1, mutado na doença renal policística autossômica recessiva, apresenta um padrão de splicing complexo associado a múltiplos transcritos alternativos. Neste trabalho estudamos o perfil de expressão de seu produto, poliductina.
Luis Fernando Carvalho de Menezes, Menezes, Luis Fernando Carvalho de   +1 more
core   +1 more source

Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

Neonatal Medicine, 2015
Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods.
Ye Jee Byun, Hyun-Jeong Do, Seong-Hee Oh, Chong Jai Kim, Beom Hee Lee, Gu-Hwan Kim, Byoung Sop Lee, Ki-Soo Kim, Ai-Rhan Kim   +8 more
openaire   +1 more source

A novel PKHD1 mutation identified in a family affected by ARPKD Ling Hou, Yue Du, Chengguang Zhao, Yubin Wu

, 2018
Objective Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited renal cystic disease involving multiple organs. It is caused by mutations in the PKHD1 gene.
Ling Hou, Yubin Wu, Yue Du, Chengguang Zhao   +3 more
core   +1 more source

Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease

Scientific Reports
Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations.
Nobuo Okui, Tsuyoshi Hachiya, Shigeo Horie   +2 more
doaj   +1 more source

Fine Mapping of the Autosomal Recessive Polycystic Kidney Disease Locus (PKHD1) and the Genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.1–p12

Genomics, 1998
A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1) for the autosomal recessive polycystic kidney disease (ARPKD), using a combination of recombination mapping and linkage analysis in 164 families.
G, Mücher, J, Becker, M, Knapp, R, Büttner, M, Moser, S, Rudnik-Schöneborn, S, Somlo, G, Germino, L, Onuchic, E, Avner, L, Guay-Woodford, K, Zerres   +11 more
openaire   +2 more sources

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

, 2015
International audienceDuctal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD).
Jean‐Baptiste Rivière, Jean‐Pierre Cerceuil, Mousson, Christiane, Julien Thevenon, Jean‐Marc Phelip, Alain Beurdeley, Christiane Mousson, Denis Massenet, Beurdeley, Alain, Michel-Calemard, Laurence, Thauvin-Robinet, Christel, Boris Guiu, Gigot, Nadège, Guiu, Boris, Daniel Meynard, Fabienne Prieur, Christel Thauvin‐Robinet, Yannis Duffourd, Claire Vanlemmens, Patrick Hillon, Jacquemin, Emmanuel, Vanlemmens, Claire, Judith St‐Onge, Massenet, Denis, Rivière, Jean-Baptiste, Phelip, Jean-Marc, Morisse, Laurent, Courcet, Jean-Benoît, Jean‐Benoît Courcet, St-Onge, Judith, Emmanuel Jacquemin, Meynard, Daniel, Faivre, Laurence, Duffourd, Yannis, Thevenon, Julien, Cerceuil, Jean-Pierre, Laurent Morisse, Flore Lacassin, Laurence Michel‐Calemard, Minello, Anne, Hillon, Patrick, Laurence Faivre, Prieur, Fabienne, Anne Minello, Lacassin, Flore, Nadège Gigot   +45 more
core   +1 more source