Results 131 to 140 of about 288,285 (261)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicine. [PDF]

Epilepsia
Moura Coelho da Silva É, Brünger T, Taylor G, Sinha M, Merket A, Cherukara A, Bajaj S, Clark J, Montanucci L, Huth EA, Fauteux M, Lhatoo SD, Boßelmann CM, Leu C, Tai RA, Lal D.   +15 more
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Correction: Automated ICD-10-Anchored Classification of Primary Care Text Data: Development and Evaluation of a Custom Multilabel Classifier. [PDF]

JMIR Med Inform
Haag C, Grischott T, Burgstaller JM, Markun S, Senn O, von Wyl V.   +5 more
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Mechanically Regulated Nanozymes for Remote Metabolic Reprogramming and Precise Cancer Therapy

Angewandte Chemie, EarlyView.
Inspired by mechanoenzymes, a ferrocene‐based mechanically regulated nanozyme converts acoustic shear force into enhanced peroxidase‐like activity by decreasing electron density and alleviating steric hindrance at the Fe active sites, thereby rewiring redox homeostasis. Leveraging this remote regulatory mechanism, a multienzyme‐regulated nanoreactor is
Fangman Chen, Xiaochun Xie, Hanyao Huang, Ka Hong Wong, Jiying Liu, Hui Fang, Shaowen Wang, Jianfang Cao, Yu Tao, Mingqiang Li, Chao Yang, Wen Sun, Dan Shao, Yunlu Dai   +13 more
wiley   +2 more sources

Chemically Regulated STING‐Activating Prodrugs of Deoxyribose Cyclic Dinucleotides Elicit Robust Immune Activation and Durable Antitumor Immunity

Angewandte Chemie, EarlyView.
All three diastereoisomers of an esterase‐sensitive phosphotriester dCDN prodrug demonstrate improved activity. The (Rp,Rp) diastereoisomer shows the highest activity with an EC50 of 1.7 nM in STING activation and displays the most pronounced antitumor activity via intravenous administration, significantly suppressing tumor proliferation, extending the
Zhiqiang Xie, Huimin Liu, Yuchen Yang, Xiaohan Sun, Jingwen Wang, Tianxiang Liu, Baifan Wang, Wenrui Qiu, Yiwen Sun, Yuting Bai, Yao Zhang, Dejun Ma, Rong Xiang, Shibo Li, Zhen Xi   +14 more
wiley   +2 more sources

Allergic Rhinitis Amplifies Asthma Risk in Patients With Chronic Rhinosinusitis: A Large‐Scale Retrospective Cohort Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and allergic rhinitis (AR) are two highly prevalent airway diseases in the United States. While the coexistence of CRS and asthma is well recognized, less is known about the development of new‐onset asthma in CRS, particularly in the context of comorbid AR. This study assessed the impact of CRS and AR on
Austin J. Lee, Mohamad R. Chaaban
wiley   +1 more source

A Deep‐Red‐Absorbing Osmium(II) Complex as a Photosensitizer for Photodynamic Therapy Inducing Immunogenic Cell Death

Angewandte Chemie, EarlyView.
A deep‐red‐excited osmium(II) photosensitizer (Os2) induces immunogenic cell death (ICD) under 740 nm irradiation and triggers robust anti‐tumor immune responses both in vitro and in vivo. ABSTRACT Immunogenic cell death (ICD), which converts tumor cells into their own vaccine, plays a pivotal role in the development of novel anticancer therapies. Here,
Yiyi Zhang, Pierre Mesdom, Eduardo Izquierdo‐García, João P. M. António, Ruonan Gao, Bruno Saubaméa, Johanne Seguin, Morgane Moinard, Philippe Arnoux, Céline Frochot, Kevin Cariou, Bich‐Thuy Doan, Gilles Gasser   +12 more
wiley   +2 more sources

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source