Results 71 to 80 of about 1,590 (147)

Genome scan reveals several loci associated with torus palatinus

Orthodontics &Craniofacial Research, Volume 28, Issue 1, Page 159-165, February 2025.
Abstract Objective Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.
Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg   +14 more
wiley   +1 more source

Identification of SETD4 as an Onco‐Immunological Biomarker Encompassing the Tumor Microenvironment, Prognoses, and Therapeutic Responses in Various Human Cancers

Immunity, Inflammation and Disease, Volume 13, Issue 1, January 2025.
SETD4 holds great potential as a novel therapeutic target for certain malignancies, and the synergistic manipulation of its related pathways along with immunotherapy or chemotherapy may be clinically valuable in cancer treatment. ABSTRACT Background SET domain‐containing protein 4 (SETD4) is a histone methyltransferase that has been shown to modulate ...
Yuyun Zhong, Ruiqi Wang, Zijie Huang, Zhaoting Hu, Bin Peng, Bin Chen, Liyue Sun   +6 more
wiley   +1 more source

Targeted brain metabolomics in a 7 month-old GBE1-deficient adult polyglucosan body disease mouse model

Targeted metabolomic profiles (protein-normalized relative abundances of brain metabolites) were obtained in an adult polyglucosan body disease mouse model and littermate controls.
Nitschke, F (via Mendeley Data)
core   +1 more source

Additional file 4 of Glycogen synthase 1 targeting reveals a metabolic vulnerability in triple-negative breast cancer

, 2023
Additional file 4: Figure S2. METABRIC mRNA expression data and patient survival. (a) Spearman correlations among GYS1 mRNA and GYS isoform 2 (GYS2), glycogen branching enzyme 1 (GBE1), glycogen breakdown enzymes glycogen phosphorylase muscle isoform ...
T. van der Sluis (16034539), S. de Jong (11482788), M. C. Zwager (16034536), T. Morita (8358702), H. Sheldon (16034530), E. C. de Heer (16034521), S. Haider (67380), B. van der Vegt (2866916), C. P. Schröder (16034545), C. E. Zois (16034524), W. A. Veldman (16034533), E. Bridges (16034527), O. Baba (16034542), A. L. Harris (7772477), M. Jalving (11482785)   +14 more
core   +1 more source

Myopathy in glycogen storage disease type IV: case report of a family

Бюллетень сибирской медицины
Aim. To study the clinical presentation and differential diagnosis of a rare hereditary disease glycogen storage disease type IV with progressive skeletal myopathy in a case report of a family.Materials and methods.
I. F. Fedoseeva, T. V. Poponnikova, O. S. Pinevich   +2 more
doaj   +1 more source

Distinct features in adult polyglucosan body disease : a case series

, 2023
: Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline.
De Winter, Jonathan, Baets, Jonathan, Bossche, Stephanie Vanden, Cypers, Gert, De Ridder, Willem, Vanden Bossche, Stephanie, Deconinck, Tine, Dekeyzer, Sven, Jacobs, Edwin   +8 more
core   +1 more source

Physiological and molecular mechanisms of nitrogen in alleviating drought stress in Phoebe bournei

Scientific Reports
To explore the mechanisms by which nitrogen alleviates drought stress in Phoebe bournei, this study integrated drought treatment with exogenous nitrogen application to assess physiological characteristics and employed transcriptome sequencing to decipher
Jing An, Honghao Huo, Qiyuan Liu, Yunli Jiang, Hong Luo, Yupei Hao   +5 more
doaj   +1 more source

Table1_Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.DOCX

, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Wladimir Bocca Viera De Rezende Pinto (17662809), Matthew M. Gayed (17662803), Paulo Sgobbi (17662806), Rebecca L. Koch (13777501), Priya S. Kishnani (9214091)   +4 more
core   +1 more source

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease

, 2023
Adult polyglucosan body disease (APBD) is characterized by the development of progressive gait dysfunction, autonomic dysfunction, sensory loss, cognitive difficulties, and neurogenic bladder after 40 years of age (Akman 1).
Andrew Dugue; Scott Grossman; Nicolas Abreu; Cinthi Pillai
core  

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Data in Brief
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching.
Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari   +6 more
doaj   +1 more source