Results 231 to 240 of about 42,556 (266)

Taming the "death receptor": translating the first-in-class p75^NTR modulator LM11A-31 from basic biology, across broad preclinical models, to clinical proof-of-concept. [PDF]

J Transl Med
Langness VF, Simmons DA, Kaur S, Massa SM, Longo FM.   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Hajdu-Cheney Syndrome in a Two-Generation Family: Longitudinal Skeletal Progression and Differential Therapeutic Responses in a Mother and Her Son. [PDF]

Int J Mol Sci
Lanzafame R, Zoller T, Pietrobelli A, Piacentini G, Gaudino R, Guzzo A, Adami G, Pollastri F, Antoniazzi F.   +8 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

CCK2R regulates METH-induced CPP acquisition within VTA-BLA-BNST circuit in male mice. [PDF]

Transl Psychiatry
Wang J, Zhang M, Qiao L, Pu Y, Sun Y, Su X, Hui R, Zhang L, Xie B, Cong B, Luo Y, Ma C, Wen D.   +12 more
europepmc   +1 more source

O-GlcNAc transferase controls excitatory synapse development and AMPA receptor expression in an activity-dependent manner. [PDF]

Front Cell Neurosci
Han L, Lagerlöf O.
europepmc   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Prolonged intermittent theta burst stimulation enhances hippocampal plasticity via GluN2A-mediated signaling. [PDF]

Front Aging Neurosci
Popovic D, Zaric Kontic M, Zeljkovic Jovanovic M, Milosevic M, Martic T, Radukic T, Stekic A, Glavonic E, Jakovljevic A, Mihajlovic K, Adzic Bukvic M, Stevanovic I, Dragic M.   +12 more
europepmc   +1 more source

Neuronal ARHGAP8 controls synapse structure and AMPA receptor-mediated synaptic transmission. [PDF]

Commun Biol
Schmidt J, Inácio ÂS, Ferreira J, Serrenho D, Socodato R, Beltrão N, Ribeiro LF, Pinheiro P, Relvas JB, Carvalho AL.   +9 more
europepmc   +1 more source