Results 121 to 130 of about 3,318 (192)

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature

Journal of Medical Case Reports, 2019
Background Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. It is caused by mutations in both alleles of the PKHD1 gene.
Sarah Belin, Cristina Delco, Paloma Parvex, Sylviane Hanquinet, Siv Fokstuen, Begoña Martinez de Tejada, Isabelle Eperon   +6 more
doaj   +1 more source

Elucidating the genetic architecture of cystic kidney disease using whole genome sequencing [PDF]

, 2023
Cystic kidney disease (CyKD) is the commonest life-threatening monogenic disorder, causing great morbidity and mortality. Whilst there is believed to be a strongly monogenic architecture, an unbiased whole genome sequencing approach to understanding the ...
Sadeghi-Alavijeh, Omid
core  

Genome wide association and gene enrichment analysis reveal membrane anchoring and structural proteins associated with meat quality in beef

BMC Genomics, 2019
Background Meat quality related phenotypes are difficult and expensive to measure and predict but are ideal candidates for genomic selection if genetic markers that account for a worthwhile proportion of the phenotypic variation can be identified.
Joel D. Leal-Gutiérrez, Mauricio A. Elzo, D. Dwain Johnson, Heather Hamblen, Raluca G. Mateescu   +4 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout

iScience
Summary: Loss of PKHD1-gene function causes autosomal recessive polycystic kidney disease (ARPKD) characterized by bilateral severely enlarged kidneys and congenital liver fibrosis requiring kidney replacement therapy most frequently during childhood ...
Julia C. Fox, Susanne T. Hahnenstein, Fatima Hassan, Andrea Grund, Dieter Haffner, Wolfgang H. Ziegler   +5 more
doaj  

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats [PDF]

, 2002
Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik‐Schöneborn, Michael Mrug, William E. Sweeney, Ellis D. Avner, Klaus Zerres, Lisa M. Guay‐Woodford, Stefan Somlo, Gregory G. Germino   +17 more
openalex   +1 more source

Characterizing the nuclear import and functions of cystin, the ciliary protein disrupted in the cpk mouse model of recessive polycystic kidney disease [PDF]

, 2015
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a ma-jor cause of pediatric morbidity and mortality. Typically, orthologous animal models are the mainstay for pathogenic studies of human diseases.
Watts, Jacob Asher
core   +1 more source

piRNA pathway targets active LINE1 elements to establish the repressive H3K9me3 mark in germ cells [PDF]

, 2014
Transposable elements (TEs) occupy a large fraction of metazoan genomes and pose a constant threat to genomic integrity. This threat is particularly critical in germ cells, as changes in the genome that are induced by TEs will be transmitted to the next ...
Aravin, Alexei A., Manakov, Sergei A., Pezic, Dubravka, Sachidanandam, Ravi   +3 more
core  

Autosomal Recessive Polycystic Kidney Disease Confirmed toPKHD1Gene Mutation: A Case ofPKHD1Gene Mutation

Neonatal Medicine, 2014
Ran Namgung, Chul Lee, Jae Eun Baek, Min Soo Park, Soon Min Lee, Kook In Park, Ho Seon Eun   +6 more
openaire   +2 more sources

Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population

Molecular Genetics & Genomic Medicine
Background To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.
Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang   +7 more
doaj   +1 more source