نتایج جستجو برای: pkd2

تعداد نتایج: 596  

2012
Sharon A Matthews Hwee San Lek Vicky L Morrison Matthew G Mackenzie Marouan Zarrouk Doreen Cantrell Susanna C Fagerholm

Leukocyte function-associated antigen-1 (LFA-1) and very late antigen-4 (VLA-4) integrins are essential for lymphocyte adhesion, trafficking and effector functions. Protein kinase D (PKD) has previously been implicated in lymphocyte integrin regulation through regulation of Rap1 activity. However, the true role of PKD in integrin regulation in primary lymphocytes has not previously been investi...

2016
Jing Xiong Ming-feng Zhou Ya-dong Wang Li-ping Chen Wan-fu Xu Yao-dong Wang Fan Deng Si-de Liu

Inflammatory bowel disease is characterized by dysregulation of the mucosal immune system resulting from impaired intestinal epithelial barrier function. Protein kinase D2 has been implicated in the regulation of immune responses. The present study was to define PKD2 might affect murine colitis. Colitis was induced in wild-type mice (PKD2WT/WT) and PKD2 catalytic activity deficient mice (PKD2SS...

2017
Jacob C. Cooper Nitin Phadnis

Sperm hyper-activation is a dramatic change in sperm behavior where mature sperm burst into a final sprint in the race to the egg. The mechanism of sperm hyper-activation in many metazoans, including humans, consists of a jolt of Ca2+ into the sperm flagellum via CatSper ion channels. Surprisingly, all nine CatSper genes have been independently lost in several animal lineages. In Drosophila, sp...

2009
Leonidas Tsiokas

The vast majority (~99%) of all known cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by naturally occurring mutations in two separate, but genetically interacting loci, pkd1 and pkd2. Pkd1 encodes a large multispanning membrane protein (PKD1) of an unknown function, while pkd2 encodes a protein (TRPP2, Polycystin-2, or PKD2) of the transient receptor potential (TRP) su...

2014
Christoph Wille Thomas Seufferlein Tim Eiseler

H invasive pancreatic tumors are often recognized in late stages due to a lack of clear symptoms and pose major challenges for treatment and disease management. Broad-band Protein Kinase D (PKD) inhibitors have recently been proposed as additional treatment option for this disease. PKDs are implicated in the control of cancer cell motility, angiogenesis, proliferation and metastasis. In particu...

Journal: :BMC Nephrology 2008
Kyriacos N Felekkis Panayiota Koupepidou Evdokia Kastanos Ralph Witzgall Chang-Xi Bai Li Li Leonidas Tsiokas Norbert Gretz Constantinos Deltas

BACKGROUND Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the formation of multiple fluid-filled cysts that destroy the kidney architecture resulting in end-stage renal failure. Mutations in genes PKD1 and PKD2 account for nearly all cases of ADPKD. Increased cell proliferation is one of the key features of the disease. Several studies indicated that polycystin-1 regul...

Journal: :Journal of the American Society of Nephrology : JASN 1996
R Torra C Badenas A Darnell C Nicolau V Volpini L Revert X Estivill

Linkage analysis was performed on 49 Catalan families with autosomal dominant polycystic kidney disease obtained via the Nephrology Department and related nephrology centers. A total of 336 subjects, 267 at risk for the disease, were investigated using three microsatellites linked to polycystic kidney disease Type 1 (PKD1) and three microsatellites linked to PKD2. All of the subjects underwent ...

2016
Mona Entezam Mohammad Reza Khatami Fereshteh Saddadi Mohsen Ayati Jamshid Roozbeh Mohammad Keramatipour

BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder caused by mutation in 2 genes PKD1 and PKD2. Thus far, no mutation is identified in approximately 10% of ADPKD families, which can suggest further locus heterogeneity. Owing to the complexity of direct mutation detection, linkage analysis can initially identify the responsible gene in appro...

Journal: :Development 2010
Uyen Tran Lise Zakin Axel Schweickert Raman Agrawal Remziye Döger Martin Blum E M De Robertis Oliver Wessely

The RNA-binding protein Bicaudal C is an important regulator of embryonic development in C. elegans, Drosophila and Xenopus. In mouse, bicaudal C (Bicc1) mutants are characterized by the formation of fluid-filled cysts in the kidney and by expansion of epithelial ducts in liver and pancreas. This phenotype is reminiscent of human forms of polycystic kidney disease (PKD). Here, we now provide da...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1999
E de Almeida M Martins Prata S de Almeida J Lavinha

BACKGROUND Autosomal dominant polycystic kidney disease is one of the most common hereditary diseases in man with an estimated prevalence of 1:1000. At least three genetic loci are responsible for the development of the disease. PKD1 localized to 16p13 is the most common gene, contributing to almost 85% of all cases, is associated with the most severe form. PKD2, localized to 4q21-23, responsib...

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