نتایج جستجو برای: ژن lrp4

تعداد نتایج: 15935  

Journal: :Bone 2013
Eveline Boudin Karen Jennes Fenna de Freitas David Tegay Geert Mortier Wim Van Hul

Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signaling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading. However,...

Journal: :Circulation. Cardiovascular genetics 2011
Andrew C Edmondson Peter S Braund Ioannis M Stylianou Amit V Khera Christopher P Nelson Megan L Wolfe Stephanie L Derohannessian Brendan J Keating Liming Qu Jing He Martin D Tobin Maciej Tomaszewski Jens Baumert Norman Klopp Angela Döring Barbara Thorand Mingyao Li Muredach P Reilly Wolfgang Koenig Nilesh J Samani Daniel J Rader

BACKGROUND Plasma levels of high-density lipoprotein cholesterol (HDL-C) are known to be heritable, but only a fraction of the heritability is explained. We used a high-density genotyping array containing single-nucleotide polymorphisms (SNPs) from HDL-C candidate genes selected on known biology of HDL-C metabolism, mouse genetic studies, and human genetic association studies. SNP selection was...

2017
Cassandra L. Happe Kevin P. Tenerelli Anastasia K. Gromova Frederic Kolb Adam J. Engler

Motor neuron (MN) diseases are progressive disorders resulting from degeneration of neuromuscular junctions (NMJs), which form the connection between MNs and muscle fibers. NMJ-in-a-dish models have been developed to examine human MN-associated dysfunction with disease; however such coculture models have randomly oriented myotubes with immature synapses that contract asynchronously. Mechanicall...

Journal: :Journal of sports science & medicine 2012
Ran Yanovich Eitan Friedman Roni Milgrom Bernice Oberman Laurence Freedman Daniel S Moran

To investigate the association of polymorphisms within candidate genes which we hypothesized may contribute to stress fracture predisposition, a case-control, cross- sectional study design was employed. Genotyping 268 Single Nucleotide Polymorphisms- SNPs within 17 genes in 385 Israeli young male and female recruits (182 with and 203 without stress fractures). Twenty-five polymorphisms within 9...

Journal: : 2023

زمینه و هدف: کم‌تحرکی در مقابل آن تمرین جزء عوامل مرتبط با شاخص‌های آسیب کبدی به‌شمار می‌روند. وجود این هنوز نقش بسیاری از تمرین‌های ورزشی به‌ویژه تمرینات تناوبی مقاومتی مصرف برخی مکمل‌های غذایی جمله اسپیرولینا بر ایمنی التهابی کاملاٌ شناخته نشده است؛ بنابراین هدف پژوهش تعیین اثر هشت هفته مکمل‌دهی هوازی فعالیت بافت کبد بیان ژن CXCL1 عضلة موش‌های صحرایی نر بود.مواد روش‌ها: نیمه‌تجربی، 60 سر موش ن...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2012
Nicole M Collette Damian C Genetos Aris N Economides LiQin Xie Mohammad Shahnazari Wei Yao Nancy E Lane Richard M Harland Gabriela G Loots

The Wnt antagonist Sost has emerged as a key regulator of bone homeostasis through the modulation of Lrp4/5/6 Wnt coreceptors. In humans, lack of Sclerostin causes sclerosteosis and van Buchem (VB) disease, two generalized skeletal hyperostosis disorders that result from hyperactive Wnt signaling. Unlike sclerosteosis, VB patients lack SOST coding mutations but carry a homozygous 52 kb noncodin...

Journal: :The Journal of pharmacology and experimental therapeutics 2011
Helmut Glantschnig Kevin Scott Richard Hampton Nan Wei Paul McCracken Pascale Nantermet Jing Z Zhao Salvatore Vitelli Lingyi Huang Peter Haytko Ping Lu John E Fisher Punam Sandhu Jacquelynn Cook Donald Williams William Strohl Osvaldo Flores Donald Kimmel Fubao Wang Zhiqiang An

Genetic studies have linked both osteoporotic and high bone mass phenotypes to low-density lipoprotein receptor-related proteins (LRP4, LRP5, and LRP6). LRPs are receptors for inhibitory Dickkopf-1 (DKK1) protein, and treatment modalities that modulate LRP/DKK1 binding therefore may act as stimulators of bone mass accrual. Here, we report that RH2-18, a fully human monoclonal anti-DKK1 antibody...

2016
William D. Phillips Angela Vincent

Myasthenia gravis is an autoimmune disease of the neuromuscular junction (NMJ) caused by antibodies that attack components of the postsynaptic membrane, impair neuromuscular transmission, and lead to weakness and fatigue of skeletal muscle. This can be generalised or localised to certain muscle groups, and involvement of the bulbar and respiratory muscles can be life threatening. The pathogenes...

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