J Gene Med 2020 Jan 26
Implementation of high-resolution melting analysis of the Porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.
Martínez-Saucedo M, Ornelas-Fuentes C, Dedden M, Sánchez-Urbina R, Díaz-García H, Aquino-Jarquin G, Moreno-Salgado R, Granados-Riveron JT
Focal dermal hypoplasia (FDH) is rare X-linked dominant disease, characterized by atrophy and linear pigmentation of the skin, split hand/foot deformi ...
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Source: PubMed
CEN Case Rep 2020 Jan 18
Melanotan II: a possible cause of renal infarction: review of the literature and case report.
Peters B, Hadimeri H, Wahlberg R, Afghahi H
Renal infarction is an uncommon condition resulting from an acute disruption of renal blood flow and it is potentially life-threatening disease. The c ...
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Source: PubMed
Int J Mol Sci
Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1.
Dolinska MB, Young KL, Kassouf C, Dimitriadis EK, Wingfield PT, Sergeev YV
Pigmentation is the result of a complex process by which the biopolymer melanin is synthesized and packed into melanosomes of melanocytes. Various typ ...
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Source: PubMed
Zhonghua Gan Zang Bing Za Zhi
[Hemochromatosis International: therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr homozygous genotype].
Zhang W, Huang J, Ou XJ, You H, Jia JD
Hereditary hemochromatosis is a kind of hereditary metabolic liver disorders. It is caused by mutations in genes related to hemochromatosis, which lea ...
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Source: PubMed
Foods
The High Content of Ent-11a-hydroxy-15-oxo-kaur- 16-en-19-oic Acid in Adenostemma lavenia (L.) O. Kuntze Leaf Extract: With Preliminary in Vivo Assays.
Hamamoto A, Isogai R, Maeda M, Hayazaki M, Horiyama E, Takashima S, Koketsu M, Takemori H
Ent-11a-hydroxy-15-oxo-kaur-16-en-19-oic acid (11aOH-KA) is a multifunctional biochemical found in some ferns, Pteris semipinnata, and its congeneric ...
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Source: PubMed
