Results 81 to 90 of about 22,826,976 (294)

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

FEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai, Mohyeddine Omrane, Nassima Benzoubir, Didier Samuel, Ama Gassama‐Diagne   +4 more
wiley   +1 more source

A combined linkage and exome sequencing analysis for electrocardiogram parameters in the Erasmus Rucphen Family study

Frontiers in Genetics, 2016
Electrocardiogram (ECG) measurements play a key role in the diagnosis and prediction of cardiac arrhythmias and sudden cardiac death. ECG parameters, such as the PR, QRS, and QT intervals, are known to be heritable and genome-wide association studies ...
Claudia Tamar Silva, Claudia Tamar Silva, Claudia Tamar Silva, Irina Zorkoltseva, Najaf Amin, Ayse Demirkan, Ayse Demirkan, Elisabeth Maria van Leeuwen, Jan Kors, Marten van den Berg, Bruno Stricker, Bruno Stricker, Bruno Stricker, André Uitterlinden, Anatoly Kirichenko, Jacqueline C.M. Witteman, Rob Willemsen, Ben Oostra, Ben Oostra, Tatiana Axenovich, Cornelia Marja Van Duijn, Cornelia Marja Van Duijn, Aaron Isaacs, Aaron Isaacs   +23 more
doaj   +1 more source

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. [PDF]

, 2011
Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all ...
Ostergaard, P, Connell, Fiona C., Simpson, MA, S. Mansour, G. Brice, P. S. Mortimer, Connell, FC, Jeffery, S, M. A. Simpson, Child, Anne H., Mansour, S, R. Trembath, F. C. Connell, A. Onoufriadis, Trembath, Richard, Mortimer, Peter S, Mortimer, Peter S., Mansour, Sahar, Kalidas, Kamini, Trembath, R, Brice, Glen, Child, AH, P. Ostergaard, Jeffery, Steve, Mortimer, PS, Ostergaard, Pia, J. Hwang, K. Kalidas, A. H. Child, Hwang, J, Simpson, Michael A, Onoufriadis, A, Connell, Fiona, S. Jeffery, Simpson, Michael A., Brice, G, Hwang, Jae, Kalidas, K, Onoufriadis, Alexandros, Child, Anne H   +39 more
core   +1 more source

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

FEBS Letters, EarlyView.
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley   +1 more source

Lack of genetic linkage evidence for a trans-acting factor having a large effect on plasma lipoprotein[a] levels in African Americans

Journal of Lipid Research, 2003
The distribution of plasma lipoprotein[a] (Lp[a]) concentrations, a risk factor for cardiovascular disease, varies greatly among racial groups, with African Americans having values that are shifted toward higher levels than those of whites.
Ruth Ann Barkley, Andrew C. Brown, Craig L. Hanis, Sharon L. Kardia, Stephen T. Turner, Eric Boerwinkle   +5 more
doaj   +1 more source

Linkage Disequilibrium and Association Analysis

, 2006
This chapter contains sections titled: Introduction Linkage Disequilibrium Mapping Genes Using Linkage Disequilibrium Tests for Association Analysis of Haplotype Data Association Tests for Quantitative Traits Association and Genomic Screening Special ...
Martin, Eden R
core   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

FEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto, Masatomo So, Ayako Furukawa, Kenji Sugase   +3 more
wiley   +1 more source

Glaucoma in Costa Rica: Initial approaches

Revista de Biología Tropical, 2004
Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease.
Gabriela Chavarría-Soley, Bernd Rautenstrauss, Jorge Azofeifa   +2 more
doaj  

Genetic determinants of obesity-related lipid traits

Journal of Lipid Research, 2004
In our ongoing effort to identify genes influencing the biological pathways that underlie the metabolic disturbances associated with obesity, we performed genome-wide scanning in 2,209 individuals distributed over 507 Caucasian families to localize ...
Gabriele E. Sonnenberg, Glenn R. Krakower, Lisa J. Martin, Michael Olivier, Anne E. Kwitek, Anthony G. Comuzzie, John Blangero, Ahmed H. Kissebah   +7 more
doaj   +1 more source

Microbiome−host proteostasis crosstalk—An emerging perspective on mechanisms and interventions toward healthy longevity

FEBS Letters, EarlyView.
Proteostasis and the gut microbiota play a key role in shaping host physiology. Microbiota‐derived metabolites, vitamins, and RNA modulate host proteostasis. Findings from model systems, including C. elegans, indicate microbes can either stabilize or disrupt host proteostasis.
Abhishek Anil Dubey, Maria Ermolaeva
wiley   +1 more source