Results 111 to 120 of about 535,411 (309)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies [PDF]

, 2014
Common intronic variants in the Human fat mass and obesity-associated gene (FTO) are found to be associated with an increased risk of obesity. Overexpression of FTO correlates with increased food intake and obesity, whilst loss-of-function results in ...
Rosa Maria Roccasecca (519728), Osborn Daniel P. S., Beales, PL, Daniel P. S. Osborn (519727), Fiona McMurray, Derek Stemple (183414), McMurray, F, Stemple Derek, Roccasecca, RM, Barroso, I, Philip L. Beales (492737), Osborn, DP, Inês Barroso (2144), Hernandez-Hernandez, V, Mukherjee, S, Derek Stemple, Cox, R, Philip L Beales, Victor Hernandez-Hernandez, Stemple, D, Sonia Christou-Savina (519731), Christou-Savina, S, Barroso Inês, Sriparna Mukherjee, Mukherjee Sriparna, Roccasecca Rosa Maria, Cox Roger, Sonia Christou-Savina, Hernandez-Hernandez Victor, Victor Hernandez-Hernandez (519729), Fiona McMurray (106290), Rosa Maria Roccasecca, Sriparna Mukherjee (519730), Beales Philip L., Daniel P S Osborn, Inês Barroso, McMurray Fiona, Osborn, DPS, Roger Cox, Christou-Savina Sonia, Roger Cox (73899)   +40 more
core   +1 more source

TFAP2B influences the effect of dietary fat on weight loss under energy restriction.

PLoS ONE, 2012
BackgroundNumerous gene loci are related to single measures of body weight and shape. We investigated if 55 SNPs previously associated with BMI or waist measures, modify the effects of fat intake on weight loss and waist reduction under energy ...
Tanja Stocks, Lars Angquist, Karina Banasik, Marie N Harder, Moira A Taylor, Jörg Hager, Peter Arner, Jean-Michel Oppert, J Alfredo Martinez, Jan Polak, Francis Rousseau, Dominique Langin, Stephan Rössner, Claus Holst, Ian A MacDonald, Yoichiro Kamatani, Andreas F H Pfeiffer, Marie Kunesova, Wim H M Saris, Torben Hansen, Oluf Pedersen, Arne Astrup, Thorkild I A Sørensen   +22 more
doaj   +1 more source

Measuring breath acetone for monitoring fat loss: Review [PDF]

Obesity, 2015
ObjectiveEndogenous acetone production is a by‐product of the fat metabolism process. Because of its small size, acetone appears in exhaled breath. Historically, endogenous acetone has been measured in exhaled breath to monitor ketosis in healthy and diabetic subjects.
openaire   +2 more sources

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Body Fat Maldistribution Among Human Immunodeficiency Virus-Infected Patients Attending Care and Treatment Clinics in Dar es salaam Municipal Hospitals [PDF]

, 2012
Long term side effects of HAART such as body fat mal-distribution have not been reported in Tanzania, since care and treatment began in 2004. Likewise perceptions and attitude of HIV/AIDS patients on treatment on their body fat mal-distribution has not ...
Njelekela, M.A, Njelekela, Marina Alois
core  

Impact of Weight Loss on Physical Function with Changes in Strength, Muscle Mass, and Muscle Fat Infiltration in Overweight to Moderately Obese Older Adults: A Randomized Clinical Trial

Journal of Obesity, 2011
Purpose. Evaluate the effects of weight loss on muscle mass and area, muscle fat infiltration, strength, and their association with physical function. Methods. Thirty-six overweight to moderately obese, sedentary older adults were randomized into either
Adam J. Santanasto, Nancy W. Glynn, Mark A. Newman, Christopher A. Taylor, Maria Mori Brooks, Bret H. Goodpaster, Anne B. Newman   +6 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source