Results 211 to 220 of about 13,372,825 (292)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

The combination of neurotropic B vitamins (B1, B6, and B12) is superior to individual B vitamins in promoting neurite growth in vitro. [PDF]

In Vitro Cell Dev Biol Anim
Rayner MLD, Ruiz AJ, Viel C.
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Metabolic pathways linked to sarcopenia in the Bushehr Elderly Health Program: kynurenine, nicotinamide, B-vitamins, and sulfur amino acids. [PDF]

BMC Geriatr
Balajam NZ, Dehghanbanadaki H, Heshmat R, Mardani-Fard HA, Kasaeian A, Majidi Z, Bandarian F, Fahimfar N, Farzadfar F, Ostovar A, Nabipour I, Razi F, Shafiee G.   +12 more
europepmc   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Cobalt‐Catalyzed C─N Bond Formation via Metal‐Hydride Hydrogen Atom Transfer (MHAT)

Angewandte Chemie, EarlyView.
Cobalt‐catalyzed metal‐hydride hydrogen atom transfer (Co‐MHAT) converts simple alkenes into C─N bonds under mild, near‐neutral conditions. A shared Co─H‐initiated radical/organocobalt intermediate is channeled into radical trapping, radical‐polar crossover, or radical ligand transfer, unifying hydroamination, hydroazidation, hydroamidation, and remote
Arman Khosravi, Ming‐Yu Ngai
wiley   +2 more sources

Inadequate Status of Multiple B Vitamins is Common Among Women in Oromia Region, Ethiopia. [PDF]

Curr Dev Nutr
McDonald CM, Tessema M, Agbemafle I, Woldeyohannes M, Fereja M, Jones KS, Arnold CD, Tesfaye B, Arabi M, Martinez H, Brown KH.   +10 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

Electro‐Organic Synthesis at a Stable Oil/Water/Solid Three‐Phase Interface Reactor

Angewandte Chemie, EarlyView.
A porous membrane electrode (PME) reactor is developed to promote oil/water/solid three‐phase interfacial contact for electro‐organic synthesis. By promoting the formation of an oil/water interfacial region within or near an amphiphilic catalytic layer, the reactor enables efficient conversion of water‐insoluble organic reactants in aqueous ...
Deyin Chen, Jianan Zhu, Huan Wu, Huajun Zheng, Longhao Jiao, Chengpu Chu, Yinghua Xu, Bin Liu   +7 more
wiley   +2 more sources

Intake of B vitamins and their circulating levels in relation to incident stroke in women and men: Findings from two national prospective cohorts in the United States. [PDF]

Am J Prev Cardiol
Zhang X, Yang B, Boden-Albala B, Anton-Culver H, Allison M, Van Horn L, Madsen TE, Malik S, Manson JE, Neuhouser ML, Reiner AP, Wong ND, Liu S.   +12 more
europepmc   +1 more source