Results 241 to 250 of about 29,865,327 (336)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Characteristics of a multigene assay (MammaPrint/Blueprint) to predict early recurrence of hormone receptor-positive, HER2-negative breast cancer: a case‒control study (WJOG16722B). [PDF]

Breast Cancer
Watanuki R, Sakai H, Kimura Y, Yoshida A, Ozaki Y, Kataoka A, Uehiro N, Fushimi A, Kamio H, Ikeno T, Wakabayashi M, Iida M, Kawaguchi T, Tsurutani J, Takano T.   +14 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Rapid and pragmatic implementation mapping for pre-implementation contextual analysis in multisite implementation trials. [PDF]

Front Health Serv
Ashcraft LE, Watson MA, Vaughan C, Lee S, Yang S, Lane-Fall MB.   +5 more
europepmc   +1 more source

Beyond Consultation: A Scoping Review of Guidance for Organisations Practicing Inclusive Research and Co‐Production With People With Cognitive Disability in the Australian Context

Australian Journal of Social Issues, EarlyView.
ABSTRACT Participatory approaches such as inclusive research and co‐production are recognised as best practice in disability research and service design. These approaches promote inclusion and improve the relevance, quality, and impact of research and services.
Jacinta Oakley, Em Bould, Natasha Layton
wiley   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

Angewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma, Komal Sharma, Anku Sharma, Kamya Rao, Rahul Jain, Brett VanVeller   +5 more
wiley   +1 more source

DNA Methylation Variation in Blood Cells may Impact Platelet Function. [PDF]

TH Open
Teichman J, Chen MH, Thibord F, Chan MV, Nkambule BB, Lachapelle AR, Ma J, Joehanes R, Liu C, Aponte AM, Panicker SR, Kanthi Y, Levy D, Johnson AD.   +13 more
europepmc   +1 more source

Structure and Biosynthesis of Mangotoxin Produced by the Plant Pathogen Pseudomonas syringae

Angewandte Chemie, EarlyView.
The structure of mangotoxin remained elusive for over two decades. Here, mangotoxin was isolated from the native producer, Pseudomonas syringae pv. syringae, and was determined to be an alkyne‐containing dipeptide. Mangotoxin inhibited the growth of multidrug‐resistant human pathogen Klebsiella pneumoniae.
Alexis H. Murray, Sohan Hazra, Ryan W. Mull, Erinn M. O'Neill, Bo Li   +4 more
wiley   +1 more source

Strengthening the global mental health workforce through collaborative education. [PDF]

World Psychiatry
Skokauskas N, Gray B, Chaimowitz G, El-Gabry DA, Fiorillo A, Lachman A, Lopez Geist A, Robertson P, Yoo HJ, Leventhal BL.   +9 more
europepmc   +1 more source

Ultrathin Membrane With Ion‐Specific Gating Enables Interfacial Decoupling of Conductivity–Selectivity for Aqueous Flow Batteries

Angewandte Chemie, EarlyView.
An interfacial ion‐specific gating strategy shifts membrane design from ion diffusion within ion‐exchange channels to ion partitioning at the membrane–electrolyte interface, thereby decoupling selectivity from conductivity. The strategy underscores the pivotal yet underexplored role of the membrane–electrolyte interface, providing a broadly applicable ...
Di Mu, Yu Xiong, Feiran Wang, Jiafeng Lei, Fei Ai, Jun Fan, Yi‐Chun Lu   +6 more
wiley   +1 more source