Results 21 to 30 of about 5,265,871 (311)

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

Cell Reports, 2014
Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial.
M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh   +20 more
doaj   +1 more source

TIMolol Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (TIM-HHT)—A Prospective, Randomized, Double-Blind, Controlled, Cross-Over Trial

Pharmaceutics, 2022
To date, there is no approved local therapeutic agent for the treatment of epistaxis due to hereditary hemorrhagic telangiectasia (HHT). Several case reports suggest the topical use of timolol.
Kornelia E. C. Andorfer, Florian Zeman, Michael Koller, Judith Zeller, René Fischer, Caroline T. Seebauer, Veronika Vielsmeier, Christopher Bohr, Thomas S. Kühnel   +8 more
doaj   +1 more source

The Epithelial-Mesenchymal Transition Factor SNAIL Paradoxically Enhances Reprogramming

Stem Cell Reports, 2014
Reprogramming of fibroblasts to induced pluripotent stem cells (iPSCs) entails a mesenchymal to epithelial transition (MET). While attempting to dissect the mechanism of MET during reprogramming, we observed that knockdown (KD) of the epithelial-to ...
Juli J. Unternaehrer, Rui Zhao, Kitai Kim, Marcella Cesana, John T. Powers, Sutheera Ratanasirintrawoot, Tamer Onder, Tsukasa Shibue, Robert A. Weinberg, George Q. Daley   +9 more
doaj   +1 more source

A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care

JIMD Reports, 2020
Background Alkaptonuria (AKU) is an ultrarare and multifaceted disease characterized by the absence of functional homogentisate 1,2‐dioxygenase activity, the enzyme responsible for breakdown of homogentisic acid—a tyrosine‐degradation product.
Mattias Rudebeck, Ciarán Scott, Nicolas Sireau, Lakshminarayan Ranganath   +3 more
doaj   +1 more source

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

Cell Reports, 2017
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases (41%)
Alissa M. D’Gama, Mollie B. Woodworth, Amer A. Hossain, Sara Bizzotto, Nicole E. Hatem, Christopher M. LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A. James Barkovich, David J. Kwiatkowski, Harry V. Vinters, Joseph R. Madsen, Gary W. Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A. Walsh   +16 more
doaj   +1 more source

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)

Frontiers in Neurology, 2021
In order to improve clinical care, coordinate research activities and raise awareness for the ultra-orphan Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, a group of NBIA clinicians and researchers, industry partners and patient ...
Ivan Karin, Boriana Büchner, Florence Gauzy, Angelika Klucken, Thomas Klopstock, Thomas Klopstock, Thomas Klopstock   +6 more
doaj   +1 more source

Gut microbiota–derived short‐chain fatty acids regulate group 3 innate lymphoid cells in HCC

Hepatology, EarlyView., 2022
Abstract Background and Aims Type 3 innate lymphoid cells (ILC3s) are essential for host defense against infection and tissue homeostasis. However, their role in the development of HCC has not been adequately confirmed. In this study, we investigated the immunomodulatory role of short‐chain fatty acids (SCFAs) derived from intestinal microbiota in ILC3
Chupeng Hu, Bingqing Xu, Xiaodong Wang, Wen‐Hua Wan, Jinying Lu, Deyuan Kong, Yu Jin, Wenhua You, Hua Sun, Xiaoxin Mu, Dongju Feng, Yun Chen   +11 more
wiley   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data

Journal of Comparative Effectiveness Research, 2023
Aim: Patients with Rett syndrome (RTT) experience gastrointestinal (GI) manifestations. This study aimed to describe the prevalence of GI manifestations and the associated medical costs in patients with RTT in the USA.
Damian M May, Jeffrey Neul, Jesus Eric Pina-Garza, Kale Kponee-Shovein, Ambika Satija, Malena Mahendran, Nathaniel Downes, Kristy Sheng, Neema Lema, Andra Boca, Patrick Lefebvre, Victor Abler, James M Youakim, Wendy Y Cheng   +13 more
doaj   +1 more source

Adenylosuccinic Acid: An Orphan Drug with Untapped Potential

Pharmaceuticals, 2023
Adenylosuccinic acid (ASA) is an orphan drug that was once investigated for clinical application in Duchenne muscular dystrophy (DMD). Endogenous ASA participates in purine recycling and energy homeostasis but might also be crucial for averting ...
Emma Rybalka, Stephanie Kourakis, Charles A. Bonsett, Behzad Moghadaszadeh, Alan H. Beggs, Cara A. Timpani   +5 more
doaj   +1 more source