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research Protein Kinase C Epsilon Signals Ultraviolet Light‐induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism^¶

3 citations , January 2005 in “Photochemistry and Photobiology”

Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.

research Acute sensitivity of the oral mucosa to oncogenic K‐ras

12 citations , March 2011 in “Journal of pathology”

Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.

research FOXN1 Duplication and Congenital Hypertrichosis

3 citations , March 2017 in “Pediatric Dermatology”

FOXN1 duplication can cause excessive hair growth.

research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

11 citations , December 2017 in “Orphanet Journal of Rare Diseases”

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

The Relationship Between Keratin 18 and Epithelial-Derived Tumors: As a Diagnostic Marker, Prognostic Marker, and Its Role in Tumorigenesis

research The relationship between keratin 18 and epithelial-derived tumors: as a diagnostic marker, prognostic marker, and its role in tumorigenesis

October 2024 in “Frontiers in Oncology”

Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.

Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation

research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)

31 citations , June 2011 in “Movement Disorders”

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPHmutation

12 citations , July 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

36 citations , March 2019 in “European Journal of Human Genetics”

The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.

research Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential

June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)”

The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.

research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene

94 citations , April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

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