Articles Related to F1
An Insight into the Role of Spliceosomal Mutations in Myelodysplastic Syndromes
The identification of altered splicing signatures in Myelodysplastic Syndromes (MDS) could likely provide key markers for diagnosis, prognostication and development of novel therapeutics. This review presents an insight into role of spliceosomal gene mutations in the pathogenesis of MDS, emphasizing on their clinical and prognostic significance. We also discuss emerging studies delineating the functional consequences of these mutations and pointing towards the emergence of a new leukemogenic pathway involving spliceosomal dysfunction.
Radiation Awareness amongst Junior Doctors
Recent literature has suggested that junior doctors’ knowledge of ionising radiation is inadequate. Advances in technology and availability have led to of these investigations being readily requested. Exposure is associated with adverse risks especially malignancy; therefore in accordance with the Ionising Radiation (Medical Exposures) Regulation (IR(ME)R), clinicians should be aware of radiation doses and their legal responsibility as referrers.
Mitochondrial Actions for Fat Browning and Energy Expenditure in White Adipose Tissue
White adipose tissue (WAT) is an endocrine organ with crucial role in the development of obesity and related diseases. White adipocytes have less mitochondria than brown adipocytes; nevertheless, there is an increasing body of evidence showing that mitochondrial parameters play a relevant role in WAT physiology, such as proliferation, differentiation and triacylglycerol storage levels.
Congenital Dyserythropoietic Anemia Type III and Primary Hemochromatosis; Coexistence of Mutations in KIF23 and HFE
Congenital dyserythropoietic anemia type III (CDA III) can be caused by mutation in KIF23. CDA III differs from CDA I and II in the sense that secondary hemochromatosis has not been reported. However, we have observed elevated serum ferritin in a CDA III family.
Clinical and Molecular Evaluation of a Case of Male Infertility and Azoospermia
Here we describe the case of a 35 year old male, with a harmonic phenotype, who sought medical assistance to assess the etiology of his infertility. As a result of clinical examination, karyotyping, FISH and molecular studies, we obtained the following karyotype: mos 45,X[18]/46,XY,idic(Y)q(11.2)[82]. Furthermore, the Y chromosome was characterized by the absence of the regions AZF2 (former AZFb, within the 11.22 band, and AZFc, within the 11.23 band), whereas the region AZF1 was conserved. Male infertility can be caused by several genetic alterations.
Editorial Board Members Related to F1
Huafeng Zhang
Professor
School of Life Science
University of Science & Technology of China
China
School of Life Science
University of Science & Technology of China
China