Results 271 to 280 of about 226,956 (383)

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Rewiring the brain: abused drugs and structural plasticity

Frontiers in Pharmacology, 2015
M Foster eOlive, Justin eGass
doaj   +1 more source

Delineating the stepwise millisecond allosteric activation mechanism of the class C GPCR dimer mGlu5. [PDF]

Nat Commun
Li M, Lan X, Shi X, Zhu C, Lu X, Pu J, Lu S, Zhang J.   +7 more
europepmc   +1 more source

N-Formimino-l-glutamate Formiminohydrolase of Aerobacter aerogenes

, 1965
Patricia Lund, Boris Magasanik
openalex   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel. [PDF]

Int J Mol Sci
Kulichik OE, Zaytseva AK, Kostareva AA, Zhorov BS.   +3 more
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

The Reversal by Organic Mercurials of “Allosteric” Changes in Glutamate Dehydrogenase

, 1965
Mark W. Bitensky, K. Lemone Yielding, Gordon M. Tomkins   +2 more
openalex   +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian   +15 more
wiley   +1 more source

The NF-κB inhibitor IκBα negates colon cancer cell migration, invasion, proliferation and tumor growth [PDF]

, 2010
Al Marzouqi, Nadia, Al Sultan, MAH, Al-Salam, Suhail, Arafat, Khouloud, Attoub, Samir, Bracke, Marc, Bruyneel, Eric, De Wever, Olivier, Gespach, Christian, Iratni, Rabah   +9 more
core   +2 more sources