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research Abstracts

2 citations , January 2019 in “Medizinische Genetik”

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.

29 citations , January 1996 in “The Journal of Clinical Endocrinology & Metabolism”

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

research Hypersomatotropism in 3 Cats without Concurrent Diabetes Mellitus

23 citations , June 2016 in “Journal of Veterinary Internal Medicine”

Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.

research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5

3 citations , January 2019 in “Journal of Dermatology”

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)

21 citations , January 2018 in “Anticancer Research”

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

research High-throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in alopecia areata

46 citations , October 2018 in “JCI insight”

CD8+ T cells are involved in alopecia areata and may cause disease relapse.

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research Abstracts

research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.

research Hypersomatotropism in 3 Cats without Concurrent Diabetes Mellitus

research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5

research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)

research High-throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in alopecia areata

research Colour Dilution Alopecia (CDA) in Ten yorkshire Terriers

research Learning from nudity: lessons from the nude phenotype

research Granulomatous skin involvement in a patient with an unusual NOD2 mutation

research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer