Results 221 to 230 of about 19,235 (265)

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

Annals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff, Alexander Schulz, Christian Hagel, Robert Büttner, Michael Reuter, Waylan K. Bessler, D. Wade Clapp, Helen Morrison   +7 more
wiley   +1 more source

Compound heterozygosity for Hb D-Punjab / β-thalassemia and blood donation: case report

Turkish Journal of Hematology, 2009
Stamatia Theodoridou, Michael Alemayechou, Parthena Perperidou, Clio Sinopoulou, Theano Karafoulidou, Georgia Kiriakopoulou   +5 more
doaj  

Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa

, 2003
Jooyoung Kim, Soo‐Chan Kim, Kana Yasukawa, Hiroshi Shimizu   +3 more
openalex   +2 more sources

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Discovery of a First‐in‐Class Covalent Allosteric SHP1 Inhibitor with Immunotherapeutic Activity

Angewandte Chemie, EarlyView.
A covalent allosteric inhibitor M029 was discovered for SHP1, a novel target for immunotherapy. M029 binds to a cryptic Cys remote from the active site, exhibits robust target engagement, and blocks tumor progression by stimulating antitumor immune response.
Zihan Qu, Frederick Nguele Meke, Zheng Zhang, Aaron D. Krabill, Christine S. Muli, Brenson A. Jassim, Jiajun Dong, Quyen D. Nguyen, Yunpeng Bai, Jinyue Li, Yiming Miao, Bardia Asadi, Levi M. Johnson, Jinmin Miao, Darci J. Trader, W. Andy Tao, Zhong‐Yin Zhang   +16 more
wiley   +2 more sources

Compound heterozygosity for hemoglobin S and D: what do we need to know?

Revista Brasileira de Hematologia e Hemoterapia
Claudia Regina Bonini-Domingos
doaj   +1 more source

Serum p‐tau217 Is a Prognostic Indicator of Cognitive Impairment in Idiopathic REM Sleep Behavior Disorder

Annals of Neurology, EarlyView.
Objective Assess the performance of serum phosphorylated tau 217 (p‐tau217) and neurofilament light chain (NfL) in predicting risk of cognitive impairment or phenoconversion to dementia in individuals with iRBD. Methods We measured serum p‐tau217 and NfL levels by electrochemiluminescence across 4 polysomnographically confirmed iRBD cohorts (n = 300 ...
Shijun Yan, Anis Sahoo, Tanja Zerenner, Kenneth Marek, Michael Sommerauer, Wolfgang Oertel, Michele T. Hu, George K. Tofaris   +7 more
wiley   +1 more source

Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia. [PDF]

Ann Pediatr Endocrinol Metab, 2018
Nasir H, Ali SI, Haque N, Grebe SK, Kirmani S.   +4 more
europepmc   +1 more source

DNase1 RS1053874 Polymorphism is Associated with Early Neurological Recovery through NET Modulation and with Long‐Term Survival in Ischemic Stroke: A Prospective Cohort Study

Annals of Neurology, EarlyView.
Objective Immunothrombosis contributes to ischemic stroke pathophysiology through neutrophil extracellular trap (NET) formation, which promotes thrombus stabilization and microvascular dysfunction. DNase1 is the principal endonuclease responsible for NET degradation.
B. Díaz‐Benito, P. Calleja, L. Alzamora, A. Ruiz‐García, A. Martínez‐Salio, M. Muñoz‐García, F. Ostos, A. García‐Culebras, A. Moraga, M.A. Moro, I. Lizasoain   +10 more
wiley   +1 more source