Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

[High RNF7 expression enhances PD-1 resistance of non-small cell lung cancer cells by promoting CXCL1 expression and myeloid-derived suppressor cell recruitment via activating NF-κB signaling].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University·2024

Identification of risk factors for ewe mortality during the pregnancy and lambing period in extensively managed flocks.

BMC veterinary research·2023

[Summary of the 2021 Annual Academic Conference of the Chinese Burn Association].

Zhonghua shao shang yu chuang mian xiu fu za zhi·2022

Commentary on a combined approach to the problem of developing biomarkers for the prediction of spontaneous preterm labor that leads to preterm birth.

Placenta·2020

Characteristics and roles of severe acute respiratory syndrome coronavirus 2-specific antibodies in patients with different severities of coronavirus 19.

Clinical and experimental immunology·2020

Cytomegalovirus infection as an underestimated trigger for checkpoint inhibitor-related pneumonitis in lung cancer: a retrospective study.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2020

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Human mutation·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Human mutation·2026

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Human mutation·2026

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

Clinical and Genetic Spectrum of Large AIP Deletions.

Human mutation·2026

Baseline fluconazole heteroresistance and risk of relapse within six months among patients with neurocryptococcosis in the Brazilian Amazon.

Medical mycology·2026

Sustained response (ORR4) as an on-treatment prognostic marker in mogamulizumab-treated mycosis fungoides and Sézary syndrome: the FIL-MOGA study.

The British journal of dermatology·2026

Mohs Micrographic Surgery After Previous Nonsurgical Treatment in Basal and Squamous Cell Carcinoma: A Scoping Review of Diagnostic Challenges.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]·2026

Clinical isolates of Mycobacterium avium complex reveal an M. intracellulare-associated IL-17/neutrophilic pulmonary immune program in a murine disease model.

mSphere·2026

Treatment approaches to macrophage activation syndrome in real life and priorities for future research: results from the international METAPHOR project.

Arthritis & rheumatology (Hoboken, N.J.)·2026

Recurrent Hydropneumothorax as an Initial Presentation of Malignant Pleural Mesothelioma: Diagnostic Challenges and the Evolving Role of Pleural Fluid Cytology.

Cureus·2026

Related Experiment Videos

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

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[High RNF7 expression enhances PD-1 resistance of non-small cell lung cancer cells by promoting CXCL1 expression and myeloid-derived suppressor cell recruitment via activating NF-κB signaling].

Identification of risk factors for ewe mortality during the pregnancy and lambing period in extensively managed flocks.

[Summary of the 2021 Annual Academic Conference of the Chinese Burn Association].

Commentary on a combined approach to the problem of developing biomarkers for the prediction of spontaneous preterm labor that leads to preterm birth.

Characteristics and roles of severe acute respiratory syndrome coronavirus 2-specific antibodies in patients with different severities of coronavirus 19.

Cytomegalovirus infection as an underestimated trigger for checkpoint inhibitor-related pneumonitis in lung cancer: a retrospective study.

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Clinical and Genetic Spectrum of Large AIP Deletions.

Baseline fluconazole heteroresistance and risk of relapse within six months among patients with neurocryptococcosis in the Brazilian Amazon.

Sustained response (ORR4) as an on-treatment prognostic marker in mogamulizumab-treated mycosis fungoides and Sézary syndrome: the FIL-MOGA study.

Mohs Micrographic Surgery After Previous Nonsurgical Treatment in Basal and Squamous Cell Carcinoma: A Scoping Review of Diagnostic Challenges.

Clinical isolates of Mycobacterium avium complex reveal an M. intracellulare-associated IL-17/neutrophilic pulmonary immune program in a murine disease model.

Treatment approaches to macrophage activation syndrome in real life and priorities for future research: results from the international METAPHOR project.

Recurrent Hydropneumothorax as an Initial Presentation of Malignant Pleural Mesothelioma: Diagnostic Challenges and the Evolving Role of Pleural Fluid Cytology.

Related Experiment Videos

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

Related Concept Videos

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