research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Report from the Chair of the Media Relations Committee
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research Highly efficient nucleophilic addition of alkyl Grignard reagents to 17-ketosteroids in the presence of cerium(III) chloride: Synthesis of 17α-propyl-17β-hydroxy-4-androsten-3-one, an androgen receptor antagonist
Adding cerium(III) chloride to Grignard reagents improves the making of compounds that could treat prostate issues and hair loss.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
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research Issue Information
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research Introduction: Contributions of the Cooperative Groups
research Experience with sonidegib in patients with advanced basal cell carcinoma: case reports
Sonidegib effectively treated advanced basal cell carcinoma with mild side effects.
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research 2020 World Congress Program At-a-Glance
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research Inhibition of CISD1 attenuates cisplatin-induced hearing loss in mice via the PI3K and MAPK pathways
Blocking CISD1 reduces hearing loss from cisplatin in mice.
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research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research President's Message
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research Arabidopsis CNGC14 Mediates Calcium Influx Required for Tip Growth in Root Hairs
CNGC14 is crucial for calcium entry needed for root hair growth in plants.
research Vice president's message
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research Investigation on antimicrobial, antioxidant, and anti-cancerous activity of Agaricus bisporus derived β-Glucan against cervical cancer cell line
Agaricus bisporus derived β-Glucan could be an effective cervical cancer treatment with antimicrobial and antioxidant properties.
research Les cançons de l'escarni
Agaricus bisporus β-Glucan particles could effectively treat cervical cancer and offer antimicrobial and antioxidant benefits.
research Chromosomal localization of acidic and basic keratin genes of the domestic dog
Acidic keratin genes are on CFA9 and basic keratin genes are on CFA27 in dogs.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research The Free Communications of the Eighth Clinical Congress (Virtual) of the Gulf Chapter of the American Association of Clinical Endocrinologists; November 5–7, 2020
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research Advertiser Beware
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