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research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

9 citations , May 2014 in “BMC medical genetics”

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

January 2022

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

The Spanish System of Territorial Autonomies: Notes for a Diagnosis

research El sistema español de autonomías territoriales: apuntes para un diagnóstico

January 2009 in “Journal of the American Academy of Dermatology”

Generalized trichoepitheliomas with alopecia may indicate myasthenia gravis.

research Permanent hair dyes and bladder cancer risk

24 citations , January 2001 in “International Journal of Cancer”

Permanent hair dye use may increase bladder cancer risk, especially in female smokers with certain genetic traits.

research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype

January 2026 in “International Journal of Dermatology”

APKH in young males may signal early hair loss and needs early attention.

research Engineered Bilayer Hydrogel with Spatiotemporal Drug and Oxygen Delivery for Diabetic Wound Microenvironment Reprogramming

December 2025 in “Regenerative Biomaterials”

The hydrogel effectively heals diabetic wounds by reducing inflammation, providing oxygen, and preventing infection.

research Cellular Senescence: Ageing and Androgenetic Alopecia

January 2023 in “Dermatology”

Ageing and increased senescent cells significantly contribute to common hair loss.

research Assessment of replication rates of human keratinocytes in engineered skin substitutes grafted to athymic mice

12 citations , June 2012 in “Wound Repair and Regeneration”

Regulating keratinocyte growth in engineered skin can improve wound healing.

research Experimental Modulation of the Differentiated Phenotype of Keratinocytes from Epidermis and Hair Follicle Outer Root Sheath and Matrix Cells

31 citations , December 1991 in “Annals of the New York Academy of Sciences”

ORS and hair matrix cells balance growth and differentiation better than normal keratinocytes, with human dermal fibroblasts crucial for proper differentiation.

research SCA-1+ Cells with an Adipocyte Phenotype in Neonatal Mouse Skin

28 citations , July 2005 in “Journal of Investigative Dermatology”

Sca-1+ cells in newborn mouse skin may become fat cells.

research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz^ica) mice points to fuzzyi> as a key element of hair cycle control

20 citations , July 2005 in “Experimental dermatology”

The fuzzy gene is crucial for controlling hair growth cycles.

research Reversal of the hair loss phenotype by modulating the estradiol-ANGPT2 axis in the mouse model of female pattern hair loss
5 citations , April 2018 in “Journal of Dermatological Science”

Adjusting estradiol-ANGPT2 levels can promote hair growth in female pattern hair loss.

research A Multimodal Approach to Augmenting Wound Healing: Progress Toward Dermal Regeneration in Mammals
June 2019 in “PRISM (University of Calgary)”

DPCs and new biomaterials can greatly improve skin healing.

research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research Weathering of the hairless scalp: a study using skin capacitance imaging and ultraviolet light-enhanced visualization
19 citations , July 2009 in “Clinical and Experimental Dermatology”

The study found that long-term sun exposure does not significantly affect follicular plugs on the scalp, and the scalp's appearance is unique compared to other body parts.

research Single-Cell RNA Profiling of Human Skin Reveals Age-Related Loss of Dermal Sheath Cells and Their Contribution to a Juvenile Phenotype
37 citations , January 2022 in “Frontiers in Genetics”

Aging reduces dermal sheath cells, affecting youthful skin appearance.

research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin
25 citations , September 1995 in “Biochemistry and Cell Biology”

High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.

research Impact of Testosterone on Hair and Skin
4 citations , January 2015 in “Endocrinology & metabolic syndrome”

Testosterone can cause acne and male-pattern baldness, affects hair growth in men and women, and makes male skin more sensitive.

research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
15 citations , February 2014 in “PloS one”

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
99 citations , July 2012 in “PLoS Genetics”

A mutation in the KRT75 gene causes frizzle feathers in chickens.

research Health-related quality of life in women with polycystic ovary syndrome attending to a tertiary hospital in Southeastern Spain: a case-control study
16 citations , July 2020 in “Health and Quality of Life Outcomes”

Women with Polycystic Ovary Syndrome (PCOS) have a lower health-related quality of life, especially those with an anovulatory phenotype, and may need specific interventions to improve it.

research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
78 citations , August 1996 in “The Journal of Clinical Endocrinology & Metabolism”

The same gene mutation can cause different symptoms in family members.

research Werewolf, there wolf: variants in Hairlessi> associated with hypotrichia and roaning in the lykoi cat breed
3 citations , May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
1 citations , August 2015 in “AACE Clinical Case Reports”

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide
August 2024 in “Veterinary Dermatology”

Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.

research Epidermal keratinocytes initiate wound healing and pro-inflammatory immune responses following percutaneous schistosome infection
39 citations , January 2015 in “International journal for parasitology/International Journal for Parasitology”

Epidermal keratinocytes start wound healing and inflammation after schistosome infection.

research Physical inactivity is a disease synonymous for a non-permissive brain disorder
18 citations , August 2011 in “Medical Hypotheses”

Physical inactivity is a primary cause of many human illnesses.

research Association of Serum IL-17A and IL-23 Levels With Alopecia Areata: A Cross-Sectional Comparative Study
December 2025 in “Cureus”

Higher IL-17A and IL-23 levels are linked to alopecia areata severity and could help in tracking and treating the disease.

research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
23 citations , June 2010 in “Journal of Investigative Dermatology”

A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.

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Research

research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

research El sistema español de autonomías territoriales: apuntes para un diagnóstico

research Permanent hair dyes and bladder cancer risk

research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype

research Engineered Bilayer Hydrogel with Spatiotemporal Drug and Oxygen Delivery for Diabetic Wound Microenvironment Reprogramming

research Cellular Senescence: Ageing and Androgenetic Alopecia

research Assessment of replication rates of human keratinocytes in engineered skin substitutes grafted to athymic mice

research Experimental Modulation of the Differentiated Phenotype of Keratinocytes from Epidermis and Hair Follicle Outer Root Sheath and Matrix Cells

research SCA-1+ Cells with an Adipocyte Phenotype in Neonatal Mouse Skin

research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz^ica) mice points to fuzzyi> as a key element of hair cycle control

research Reversal of the hair loss phenotype by modulating the estradiol-ANGPT2 axis in the mouse model of female pattern hair loss

research A Multimodal Approach to Augmenting Wound Healing: Progress Toward Dermal Regeneration in Mammals

research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis

research Weathering of the hairless scalp: a study using skin capacitance imaging and ultraviolet light-enhanced visualization

research Single-Cell RNA Profiling of Human Skin Reveals Age-Related Loss of Dermal Sheath Cells and Their Contribution to a Juvenile Phenotype

research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin

research Impact of Testosterone on Hair and Skin

research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis

research Health-related quality of life in women with polycystic ovary syndrome attending to a tertiary hospital in Southeastern Spain: a case-control study

research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.

research Werewolf, there wolf: variants in Hairlessi> associated with hypotrichia and roaning in the lykoi cat breed

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide

research Epidermal keratinocytes initiate wound healing and pro-inflammatory immune responses following percutaneous schistosome infection

research Physical inactivity is a disease synonymous for a non-permissive brain disorder

research Association of Serum IL-17A and IL-23 Levels With Alopecia Areata: A Cross-Sectional Comparative Study

research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice