Tag : Mutation

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Wayne State researchers receive grant to develop new treatments for Barth syndrome

Newsemia
Barth syndrome is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers...
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Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation

Newsemia
Santos-Mandujano, RA; Ryan, NS; Chávez-Gutiérrez, L; Sánchez-Torres, C; Meraz-Ríos, MA; (2020) Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis...
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Scientists create world’s first model of pituitary disease using human iPS cells

Newsemia
Researchers at Kobe University’s Graduate School of Medicine have developed the world’s first congenital pituitary hypoplasia model using patient-derived iPS cells. Source link...
Biology

A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity [Research Article]

Newsemia
Krüppel-like factor 1 (KLF1/EKLF) is a transcription factor that globally activates genes involved in erythroid cell development. Various mutations are identified in the human KLF1...
Gastroenterology

Tumour infiltrating lymphocyte status is superior to histological grade, DNA mismatch repair and BRAF mutation for prognosis of colorectal adenocarcinomas with mucinous differentiation

Newsemia
Tumour infiltrating lymphocyte status is superior to histological grade, DNA mismatch repair and BRAF mutation for prognosis of colorectal adenocarcinomas with mucinous differentiation Source link...
Latest News

Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

Newsemia
Dunwoodie, S; Clements, M; Sparrow, DB; Sa, X; Conlon, RA; Beddington, RS; (2002) Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3...
Pharma / Biotech

Safety, Clinical Activity and Pharmacokinetics of Alflutinib (AST2818) in Advanced NSCLC Patients with EGFR T790M Mutation.

Newsemia
Related Articles Safety, Clinical Activity and Pharmacokinetics of Alflutinib (AST2818) in Advanced NSCLC Patients with EGFR T790M Mutation. J Thorac Oncol. 2020 Jan 30;: Authors:...
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Determining Microsatellite Instability Status Using Multiplex PCR-Based Methods

Newsemia
Determining microsatellite instability status using multiplex PCR-based methods can be used to further screen for Lynch Syndrome, a dominant hereditary cancer propensity. Source link...
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Harmful genetic mutations in healthy donors' stem cells may create problems in AML patients

Newsemia
A stem cell transplant – also called a bone marrow transplant – is a common treatment for blood cancers, such as acute myeloid leukemia. Source...
Gastroenterology

Boston researchers develop novel approach to generate intestinal organoids in vitro

Newsemia
Boston researchers have developed a new way to generate groups of intestinal cells that can be used, among others, to make disease models in the...

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