Results 61 to 70 of about 41,331 (231)

Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome

Journal of Inflammation, 2012
Background Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal ...
Wilson Lori D, Al-Majid Sadeeka, Rakovski Cyril S, MD Christina D   +3 more
doaj   +1 more source

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Orphanet Journal of Rare Diseases, 2021
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin, Guido Pieles   +5 more
doaj   +1 more source

Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition

Membranes, 2022
The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu, Ying-Chih Chen, Ruo-Yun Lai, Jui-Fen Chan, Ya-Hui Lee, Maria Balazova, Yuan-Hao Howard Hsu   +6 more
doaj   +1 more source

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.

Frontiers in Physiology, 2013
The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers, Yan eHuang, Arnold W Strauss, Zaza eKhuchua   +3 more
doaj   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

On the descriptive validity of ICD-10 schizophrenia: Empirical analyses in the spectrum of non-affective functional psychoses [PDF]

, 2003
In order to examine the descriptive validity of ICD-10 schizophrenia, 1,476 consecutively admitted in-patients were included in the present study. ICD-10 schizophrenia (n = 951) was compared with other non-affective psychotic disorders {[}persistent ...
Bottlender, Ronald, Jäger, Markus, Möller, Hans-Jürgen, Strauss, Anton   +3 more
core   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2015
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin.
Jan Dudek, I‐Fen Cheng, Arpita Chowdhury, Katharina Wozny, Martina Balleininger, Robert Reinhold, Silke Grunau, Sylvie Callegari, Karl Toischer, Ronald JA Wanders, Gerd Hasenfuß, Britta Brügger, Kaomei Guan, Peter Rehling   +13 more
doaj   +1 more source

Outlook Magazine, Autumn 2011 [PDF]

, 2011
https://digitalcommons.wustl.edu/outlook/1184/thumbnail ...

core   +1 more source

Sensing of cardiolipin exposure on plasma membranes of apoptotic cells by EryA‐mCherry protein

The FEBS Journal, EarlyView.
An aegerolysin protein erylysin A (EryA) fused with mCherry binds to artificial lipid vesicles supplemented with cardiolipin (CL). This binding is much more specific than that of annexin V, which binds various negatively charged glycerophospholipids (PG, PS, PI). In mammalian cells, the CL exposition at the membrane surface represents an early hallmark
Luka Žeželj, Tadeja Bele, Anastasija Panevska, Gregor Bajc, Jan Kejžar, Miha Bahun, Nataša Poklar Ulrih, Valentina Levak, Matej Skočaj, Larisa Lara Popošek, Peter Veranič, Nataša Resnik, Kristina Sepčić   +12 more
wiley   +1 more source