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research SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor

April 2019 in “Journal of the Endocrine Society”

A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.

research BH08 Unprovoked pulmonary emboli in a patient with alopecia areata treated with ritlecitinib: a case report

June 2025 in “British Journal of Dermatology”

Ritlecitinib may cause serious side effects like blood clots in alopecia areata patients.

research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation

28 citations , June 1995 in “The Journal of Dermatology”

The flaky skin mouse mutation is a natural model for studying human psoriasis.

research Structural insights into SARS-CoV-2 spike protein and its natural mutants found in Mexican population

44 citations , February 2021 in “Scientific Reports”

Mutations in the spike protein affect drug binding and effectiveness.

research Mechanism of TAp73 inhibition by ΔNp63 and structural basis of p63/p73 hetero-tetramerization

29 citations , October 2016 in “Cell death and differentiation”

ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.

research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.

November 2025 in “Journal of Investigative Dermatology”

KLHL24-mutant stem cells help understand skin and heart disease.

research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly

22 citations , April 2012 in “The American journal of pathology”

Loss of Msx2 function causes eye development issues similar to Peters anomaly.

research Finding bald spots on chromosome 20p11

1 citations , February 2009 in “Clinical Genetics”

New genes linked to male pattern baldness were found on chromosome 20p11.

research Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b–3 trial

227 citations , April 2023 in “The Lancet”

Ritlecitinib effectively treats alopecia areata and is well-tolerated.

research Connexin 43 expression in the testes during postnatal development of finasteride-treated male rat offspring

3 citations , February 2017 in “Archives of Medical Science”

Finasteride treatment changes Cx43 in rat testes, possibly causing fertility issues.

research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].

3 citations , August 1988 in “PubMed”

research Spectrum of Phenotypes Associated with Human MC1R Variations

June 2025 in “Albus Scientia”

MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.

research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

1 citations , December 2015 in “Balkan Journal of Medical Genetics”

Genetic screening can help diagnose and manage infertility in Slovenian couples.

research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib

January 2026 in “Clinical and Experimental Dermatology”

Ruxolitinib helped a patient with alopecia areata regrow hair.

research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study

November 2025 in “Frontiers in Immunology”

SQSTM1 gene issues may increase the risk of alopecia areata.

research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits

1 citations , January 2020 in “Research Square (Research Square)”

Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.

research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague

January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases”

Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.

research Distribution of SALT Scores with Ritlecitinib Treatment up to 24 months from the ALLEGRO Phase 2b/3 and Long-Term Phase 3 Clinical Studies in Alopecia Areata

November 2024 in “SKIN The Journal of Cutaneous Medicine”

Ritlecitinib effectively reduces severe hair loss in alopecia areata over 24 months.

Zinc Transporter ZIP13 G289R Variant From Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated With Abnormal Hair Quality

research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality

February 2025 in “Journal of Investigative Dermatology”

The ZIP13 variant is linked to abnormal hair quality.

research Novel associations of VPS13C with phenotype and conversion of idiopathic REM sleep behavior disorder

April 2026 in “npj Parkinson s Disease”

VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.

research 699 Pharmacological blockade of the CX3CR1/CX3CL1 fractalkine axis prevents alopecia areata in C3H/HeJ mice

April 2021 in “Journal of Investigative Dermatology”

research A Plain Language Summary on Ritlecitinib Treatment for Adults and Adolescents with Alopecia Areata

7 citations , July 2023 in “Immunotherapy”

Ritlecitinib works well and is safe for treating alopecia areata.

research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep

February 2026 in “Small Ruminant Research”

The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.

research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b

4 citations , December 2013 in “The Journal of Dermatology”

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia

37 citations , August 1999 in “Journal of Investigative Dermatology”

A specific gene mutation causes complete hair loss without other health issues.

research Disruption of tubular Flcn expression as a mouse model for renal tumor induction

29 citations , June 2015 in “Kidney International”

Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.

research IL-3 contributes to development of lupus nephritis in MRL/Ipr mice

40 citations , July 2015 in “Kidney International”

IL-3 worsens lupus nephritis and blocking it improves kidney health.

research Inducible expression of gasdermin A3 in the epidermis causes epidermal hyperplasia and skin inflammation

12 citations , July 2015 in “Experimental Dermatology”

Gasdermin A3 overexpression in skin causes inflammation and hair loss.

research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

12 citations , January 2000 in “Biochemical and Biophysical Research Communications”

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

research Molecular mechanisms of Y chromosome loss and UTY gene activity

February 2024 in “Future science OA”

Loss of the Y chromosome and UTY gene activity increases cancer risk in men.

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