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research Transgenic mice overexpressing protein kinase C epsilon in their epidermis exhibit reduced papilloma burden but enhanced carcinoma formation after tumor promotion.

99 citations , February 2000 in “PubMed”

Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.

research 746 Transcriptomic profiling of frontal and occipital dermal papilla reveals potential role of TRPS1 in androgenic alopecia

July 2022 in “Journal of Investigative Dermatology”

TRPS1 loss in balding scalp areas contributes to hair loss in androgenic alopecia.

research Defective trophoblast function in mice with a targeted mutation of Ets2

301 citations , May 1998 in “Genes & Development”

Ets2 gene is crucial for placental development in mice.

research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

106 citations , March 2013 in “Nature Communications”

A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.

research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations

40 citations , September 2004 in “Biomacromolecules”

The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.

Analysis of Vitamin D Receptor Gene Polymorphisms in Alopecia Areata

research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata

1 citations , January 2017 in “The Annals of Clinical and Analytical Medicine”

Vitamin D receptor gene changes don't affect alopecia areata risk.

research KRASG12D mutant cells are outcompeted by wild type neighbours in adult pancreas in an EPHA2-dependent manner

August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.

Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma

research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

11 citations , September 2011 in “British Journal of Dermatology”

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene

14 citations , February 1991 in “FEBS Letters”

Introducing the rat OTC gene partially corrected OTC deficiency in mice.

research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita

46 citations , September 2007 in “Journal of Investigative Dermatology”

research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1

4 citations , September 2010 in “Journal of Dermatological Science”

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome

October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences”

The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.

research Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss

9 citations , November 2012 in “Archives of Dermatological Research”

MC4R gene variants not linked to female hair loss.

research Nucleocytoplasmic Communication in Progeria

April 2014 in “Libra”

Defective nuclear transport may cause gene expression changes in Progeria.

research CFTR potentiator ivacaftor protects against noise-induced hair cell loss by increasing Nrf2 and reducing oxidative stress

4 citations , August 2023 in “Biomedicine & Pharmacotherapy”

Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

May 2025 in “Dermatology Reports”

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

36 citations , July 2014 in “Neuromuscular Disorders”

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

research Alterations in the expression of specific epidermal keratin markers in the hairless mouse by the topical application of the tumor promoters 2,3,7,8-tetrachlorodibenzo-p-dioxin and the phorbol ester 12-O-tetradecanoylphorbol-13-acetate

12 citations , January 1987 in “Carcinogenesis”

TCDD changes skin cell growth and keratin production in mice.

research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?

3 citations , January 2017 in “Acta Dermato Venereologica”

Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.

Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus

research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus

April 2023 in “Journal of Investigative Dermatology”

PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.

research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy

11 citations , January 1989

Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.

research Human hair follicle and interfollicular keratinocyte reactivity to mouse HPV16-transformed cells: An in vitro study

9 citations , July 2008 in “Oncology Reports”

HPV16-transformed cells can change human skin cell properties, aiding tumor growth.

research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia

57 citations , November 2006 in “International Journal of Cancer”

A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.

research Targeted Overexpression of the Angiogenesis Inhibitor Thrombospondin-1 in the Epidermis of Transgenic Mice Prevents Ultraviolet-B-Induced Angiogenesis and Cutaneous Photo-Damage

93 citations , May 2002 in “Journal of Investigative Dermatology”

Overexpressing thrombospondin-1 in mice skin prevents UVB-induced skin damage.

research Constitutive activation of Stat3 in mouse epidermis is linked to hair deficiency and cytoskeletal network damage

1 citations , May 2015 in “Experimental Dermatology”

Overactive Stat3 in mouse skin causes hair loss and cell structure damage.

research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

50 citations , February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome

1 citations , May 2011 in “Molecular Medicine Reports”

The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.

research The Suppression of Very Long Chain Fatty Acids Is Associated with Skin Carcinogenesis

March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

Suppressing very long chain fatty acids is linked to skin cancer.

research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway

10 citations , October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology”

The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.

research CRISPR/Cas9-mediatedVDRknockout plays an essential role in the growth of dermal papilla cells through enhanced relative genes

2 citations , July 2019 in “PeerJ”

Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.

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