Results 121 to 130 of about 215,781 (262)

Large‐Scale Machine Learning to Screen for Small‐Molecule Senolytics

Advanced Intelligent Discovery, EarlyView.
A consistent workflow underpins all experiments in this study. A dedicated model‐selection dataset first identifies optimal hyperparameters for each algorithm. Models are then trained and rigorously evaluated on independent sets of molecules using the senolytic ratio SR. Comprehensive hyperparameter exploration across SMILES representations, task types,
Alexis Dougha, Jesus Gil, Pedro J. Ballester   +2 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Age‐associated immune dysregulation links to disease severity in macrolide‐resistant Mycoplasma pneumoniae pneumonia: Insights from a comparative juvenile–adult mouse model

Animal Models and Experimental Medicine, EarlyView.
Macrolide‐resistant Mycoplasma pneumoniae (MRMP) infected both juvenile and adult mice, with results compared to normal juvenile mice. The findings revealed comparable bacterial loads between juvenile and adult mice, yet juvenile mice exhibited more severe lung damage and elevated levels of inflammatory cytokines.
Xuejun Li, Yudong Wang, Liyong Liu, Mengmeng Gong, Jinlong Wang, Yuqing Cao, Zhixin Sun, Fanliang Meng, Qiuyan Wang, Hongji Wu, Fei Zhao, Yan Ma, Yibai Xiong   +12 more
wiley   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Analysis of energy expenditure and behavioral characteristics in different mouse strains under normal and disease conditions

Animal Models and Experimental Medicine, EarlyView.
Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng, Yuanjun Ji, Yan Zou, Jing Tan, Teng Wu, Conghui Shen, Tongsheng Huang, Shijie Xiong, Mengying Liu, Maoquan Yang, Jingwei Lai, Jiangwei Ma, Junhong Wan, Xinlu Fu, Jiang Qian, Hui Li, Ludong Yuan, Weibin Cai   +17 more
wiley   +1 more source

Genetic drivers of congenital cardiac fibrosis. [PDF]

Commun Biol
Zeigler AC, Touma M.
europepmc   +1 more source