Results 91 to 100 of about 2,901 (167)

多囊蛋白和纤维囊蛋白在肺癌组织中的定位分布

Zhongguo shiyan zhenduanxue, 2022
4302个氨基酸(aa),一个大的细胞外N末端,11个跨膜结构域和一个细胞内C末端;多囊蛋白-2(PC2)是一种由968个aa组成的阳离子通道,含六个跨膜结构和细胞内N-和C-末端,并能与PC1形成通道复合体和流量传感器[1]。常染色体隐性多囊肾病(ARPKD)是由多囊肾肝病1(PKHD1)基因突变引起的,PKHD1编码纤维囊蛋白(fibrocystin),它也是一种大蛋白(4074aa),具有一个长的细胞外N-末端、一个跨膜结构域和一个细胞质C-末端[2]。除了肾,多囊蛋白在其他非肾脏组织也广泛表达 ...
doaj  

Frequent genetic alterations of TTN, PLXNA2 and PKHD1 in giant cell glioblastoma

, 2016
Objective: Giant cell glioblastoma (gcGBM), characterized by the predominance of bizarre multinucleated giant cells, is a rare variant of GBM, accounting for less than 5%. They develop in younger patients de novo after a short clinical history. They tend to be well delineated and carry a better[for full text, please go to the a.m. URL]
Pierscianek, D, Kim, YH, El Hindy, N, Sure, U, Ohgaki, H   +4 more
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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

Poster Sessions

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

Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations [PDF]

, 2018
Jéssica Molín, Javier Asín, Arantza Vitoria, A. Sanz, Marina Gimeno, A. Romero, Javier Sánchez-Marco, Pedro Pinczowski, Francisco José Vázquez, C. Rodellar, Lluís Luján   +10 more
openalex   +1 more source

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

, 2021
Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomáš Seeman, Lale Sever, Przemysław Sikora, Maria Szczepańska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz T. Weber, Elke Wühl, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max C. Liebau, Loai Eid, Klaus Arbeiter, Nathalie Godefroid, Jacques Lombet, Aurélie De Mul, Markus Feldkoetter, Jakub Zieg, Franziska Grundmann, Matthias Galiano, Bjoern Buchholz, Anja Buescher, Karsten Häffner, Oliver Groß, Ludwig Patzer, Jun Oh, Dieter Haffner, Wanja M. Bernhardt, Susanne Schaefer, Simone Wygoda, Jan Halbritter, Ute Derichs, Günter Klaus, Felix Lechner, Sabine Ponsel, Jens König, Hagen Staude, Donald Wurm, Martin Bald, Michaela Geßner, Neveen A. Soliman, Gema Ariceta, Juan David González-Rodríguez, Francisco de la Cerda Ojeda, Jérôme Harambat, Denis Morin, Claire Dossier, Guillaume Dorval, Rukshana Shroff, Stella Stabouli, Nakysa Hooman, Francesca Mencarelli, William Morello, Germana Longo, Francesco Emma, Augustina Jankauskienė, Katarzyna Taranta‐Janusz, Ilona Zagożdżon, Katarzyna Zachwieja, Małgorzata Stańczyk, Beata Bieniaś, Mieczysław Litwin, Aurelia Morawiec‐Knysak, Alberto Caldas Afonso, Oliver Dunand, Andreea Liana Răchişan, Gordana Miloševski‐Lomić, Svetlana Papizh, Rina Rus, Houweyda Jilani, Bahriye Atmış, Ali Düzova, Alper Soylu, Cengiz Candan, Salim Çalışkan, Alev Yılmaz, İbrahim Gökçe   +99 more
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An extracellular vesicle based hypothesis for the genesis of the polycystic kidney diseases

Extracellular Vesicle
Autosomal dominant polycystic kidney (ADPKD) disease is the commonest genetic cause of kidney failure (affecting 1:800 individuals) and is due to heterozygous germline mutations in either of two genes, PKD1 and PKD2.
Marie C. Hogan, Christopher J. Ward
doaj   +1 more source

MyGene2 automated match report: PKD1

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire   +1 more source

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

Neonatal Medicine, 2014
Jae Eun Baek, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee   +6 more
openaire   +1 more source

SO094HUMAN URINE-DERIVED RENAL EPITHELIAL CELLS PROVIDE INSIGHTS INTO THE PATHOGENICITY OF PKHD1 VARIANTS [PDF]

, 2020
Elisa Molinari, Shalabh Srivastava, Becky Dewhurst, John A. Sayer   +3 more
openalex   +1 more source