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Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/- Mice

research Hair Follicle Disruption Facilitates Pathogenesis to UVB-Induced Cutaneous Inflammation and Basal Cell Carcinoma Development in Ptch+/− Mice

8 citations , March 2014 in “American Journal of Pathology”

Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.

research Association of HSPA1B SNP rs6457452 with Alopecia Areata in the Korean Population

12 citations , December 2013 in “Immunological Investigations”

The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.

research Hair Cycle-Dependent Expression of Hepatocyte Growth Factor (HGF) Activator, Other Proteinases, and Proteinase Inhibitors Correlates with the Expression of HGF in Rat Hair Follicles

33 citations , December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”

Lack of Concordance and Linkage Disequilibrium Among Brothers for Androgenetic Alopecia and CAG/GGC Haplotypes of the Androgen Receptor Gene in Mexican Families

research Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families

2 citations , July 2015 in “Journal of Cosmetic Dermatology”

No clear link between specific gene and hair loss in Mexican brothers.

research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks

January 2016 in “Zurich Open Repository and Archive (University of Zurich)”

Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.

research Congenital hair loss disorders: Rare, but not too rare

41 citations , November 2011 in “The Journal of Dermatology”

Some hair loss disorders are caused by genetic mutations affecting hair growth.

research Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner

11 citations , November 2014 in “Behavior Genetics”

research Ocular manifestation in progeria: A case report

July 2020 in “Nepalese journal of ophthalmology”

A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.

research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families

6 citations , August 2024 in “BMC Ophthalmology”

New genetic variants linked to albinism were found in Pakistani families.

research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle

1 citations , February 1991 in “Journal of Biological Chemistry”

research 441 Anti-melanoma gene signature in dermal sheath fibroblasts from scalp hair follicles in Recessive Dystrophic Epidermolysis Bullosa (RDEB)

November 2024 in “Journal of Investigative Dermatology”

research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

1 citations , September 2021 in “Frontiers in genetics”

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

research Independent DSG4 frameshift variants in cats with hair shaft dystrophy

December 2021 in “Molecular genetics and genomics”

Cats with abnormal hair had DSG4 gene changes causing hair problems.

Demethylation of ITGAV Accelerates Osteogenic Differentiation in a Blast-Induced Heterotopic Ossification In Vitro Cell Culture Model

research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model

11 citations , December 2018 in “Bone”

Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.

research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene

48 citations , August 1998 in “Developmental Biology”

Deleting part of a gene in mice causes wavy hair and high pup loss.

research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia

1 citations , March 2022 in “Journal of biological chemistry/The Journal of biological chemistry”

Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.

research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

16 citations , July 2021 in “American Journal of Medical Genetics Part A”

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

research Alopecia totalis in an infant

February 2023 in “Cosmoderma”

An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.

research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

8 citations , June 2016 in “Journal of Investigative Dermatology”

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

research Ectopic production of hair keratin constitutes Rushton’s hyaline bodies in association with hematogenous deposits

6 citations , April 2012 in “Journal of Oral Pathology and Medicine”

Rushton's hyaline bodies form from hair keratin and blood substances.

research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome

9 citations , September 2015 in “Reproductive Biomedicine Online”

Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.

research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants

March 2026 in “Journal of Investigative Dermatology”

research Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma

8 citations , April 2016 in “Experimental Dermatology”

The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.

research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation

November 2022 in “Journal of Investigative Dermatology”

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

research The molecular basis of human keratin disorders

79 citations , February 2009 in “Human Genetics”

research Antimelanogenic effect of ginsenoside Rg3 through extracellular signal-regulated kinase-mediated inhibition of microphthalmia-associated transcription factor

33 citations , January 2015 in “Journal of Ginseng Research”

Ginsenoside Rg3 from Panax ginseng can lighten skin by reducing melanin production.

research Editor's evaluation: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis

April 2022

Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.

Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function

research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function

31 citations , July 2004 in “Molecular Medicine”

Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.

research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation

15 citations , June 2019 in “Biochemical Journal”

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells

1 citations , September 2019 in “Journal of Investigative Dermatology”

The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.

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