Tag : phenotype

Neurology

Expansion of the phenotype of biallelic variants in TRIT1.

Newsemia
Related Articles Expansion of the phenotype of biallelic variants in TRIT1. Eur J Med Genet. 2020 Jun;63(6):103882 Authors: Forde KM, Molloy B, Conroy J, Green...
Cardiology

A proposed lung ultrasound and phenotypic algorithm for the care of COVID-19 patients with acute respiratory failure.

Newsemia
Related Articles A proposed lung ultrasound and phenotypic algorithm for the care of COVID-19 patients with acute respiratory failure. Can J Anaesth. 2020 10;67(10):1393-1404 Authors:...
Cardiology

HiPS-Cardiac Trilineage Cell Generation and Transplantation: a Novel Therapy for Myocardial Infarction.

Newsemia
Related Articles HiPS-Cardiac Trilineage Cell Generation and Transplantation: a Novel Therapy for Myocardial Infarction. J Cardiovasc Transl Res. 2020 02;13(1):110-119 Authors: Jackson AO, Tang H,...
Dermatology

TRAF6 Activates Fibroblasts to Cancer-Associated Fibroblasts through FGF19 in Tumor Microenvironment to Benefit the Malignant Phenotype of Melanoma Cells

Newsemia
Cancer-associated fibroblasts (CAFs) are an important component of the tumor microenvironment and mediate tumor progression in various cancers. A previous study demonstrated that TRAF6 promotes...
AI/ML

Human Dendritic Cell Subsets, Ontogeny, and Impact on HIV Infection.

Newsemia
Related Articles Human Dendritic Cell Subsets, Ontogeny, and Impact on HIV Infection. Front Immunol. 2019;10:1088 Authors: Rhodes JW, Tong O, Harman AN, Turville SG Abstract...
AI/ML

A Deep Learning-Based Approach for High-Throughput Hypocotyl Phenotyping.

Newsemia
Related Articles A Deep Learning-Based Approach for High-Throughput Hypocotyl Phenotyping. Plant Physiol. 2019 12;181(4):1415-1424 Authors: Dobos O, Horvath P, Nagy F, Danka T, Viczián A...
Cardiology

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Newsemia
Related Articles Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1. Am J Med Genet A. 2020 Sep 08;: Authors:...
Neurology

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

Newsemia
Related Articles Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. 2020 Sep 04;: Authors: DiBacco ML, Pop A, Salomons GS, Hanson E,...
AI/ML

Differential coexpression networks in bronchiolitis and emphysema phenotypes reveal heterogeneous mechanisms of chronic obstructive pulmonary disease.

Newsemia
Related Articles Differential coexpression networks in bronchiolitis and emphysema phenotypes reveal heterogeneous mechanisms of chronic obstructive pulmonary disease. J Cell Mol Med. 2019 10;23(10):6989-6999 Authors:...
Neurology

A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis.

Newsemia
Related Articles A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis. Parkinsonism Relat Disord. 2019 12;69:147-149 Authors: Stezin A, Chaithra SP, Holla...
Cardiology

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

Newsemia
Related Articles Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. Clin Genet. 2019 12;96(6):549-559 Authors: Kühnisch J, Herbst C, Al-Wakeel-Marquard...
Dentistry

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Newsemia
Related Articles Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. Eur J Med Genet. 2020...
Cardiology

The Ubiquitin Ligase WWP1 Contributes to Shifts in Matrix Proteolytic Profiles and a Myocardial Ageing Phenotype with Diastolic Heart Failure.

Newsemia
Related Articles The Ubiquitin Ligase WWP1 Contributes to Shifts in Matrix Proteolytic Profiles and a Myocardial Ageing Phenotype with Diastolic Heart Failure. Am J Physiol...
AI/ML

High-Risk Phenotypes of Early Psychiatric Readmission in Bipolar Disorder With Comorbid Medical Illness.

Newsemia
Related Articles High-Risk Phenotypes of Early Psychiatric Readmission in Bipolar Disorder With Comorbid Medical Illness. Psychosomatics. 2019 Nov – Dec;60(6):563-573 Authors: Edgcomb J, Shaddox T, Hellemann...

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