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research Loss of PIKFyve Kinase Function Driven by Platelet Factor 4 Promoter Results in Platelet Lysosomal Storage Defects and Infiltration of Multiple Organs with Vacuolated Macrophages

November 2011 in “Blood”

PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.

research Characterization of Primary Cilia and Intraflagellar Transport 20 in the Epidermis

1 citations , January 2020

Ift20 is essential for hair follicle function and skin cell movement.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

181 citations , January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity

December 2022 in “Biochemical and Biophysical Research Communications”

HtrA2 activity is crucial for normal hair growth by regulating fat cell development.

Exploring the Causal Relationship and Molecular Mechanisms Between Fasting Insulin and Androgenetic Alopecia: A Mendelian Randomization Study with Bioinformatics Analysis

research Exploring the Causal Relationship and Molecular Mechanisms Between Fasting Insulin and Androgenetic Alopecia: A Mendelian Randomization Study with Bioinformatics Analysis

February 2025 in “Clinical Cosmetic and Investigational Dermatology”

Higher fasting insulin levels increase the risk of androgenetic alopecia.

A Cell Membrane-Level Approach to Cicatricial Alopecia Management: Is Caveolin-1 a Viable Therapeutic Target in Frontal Fibrosing Alopecia?

research A Cell Membrane-Level Approach to Cicatricial Alopecia Management: Is Caveolin-1 a Viable Therapeutic Target in Frontal Fibrosing Alopecia?

4 citations , May 2021 in “Biomedicines”

Targeting the protein Caveolin-1 might help treat a type of scarring hair loss called Frontal Fibrosing Alopecia.

research The role of hsa‐miR‐193a‐5p as an important factor for control of inositol in alopecia areata

June 2024 in “Skin Research and Technology”

hsa-miR-193a-5p may help diagnose and treat alopecia areata.

research Molecular studies of Hutchinson-Gilford progeria syndrome

May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)”

Suppressing the HGPS mutation may improve symptoms and suggest reversibility.

Pathogenic Variants Affecting Peptidyl Arginine Deiminase 3 and Its Major Substrates Underlie Central Centrifugal Cicatricial Alopecia

research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.

November 2025 in “PubMed”

Genetic variants in specific genes cause a type of hair loss.

research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing

October 2023 in “Psychiatry research. Case reports”

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

research Alopecia Universalis Associated with a Mutation in the Human hairless Gene

412 citations , January 1998 in “Science”

A mutation in the human hairless gene causes alopecia universalis.

research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism

3 citations , April 2020 in “American Journal of Case Reports”

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

research Abstract A12: Androgen receptor inhibition is involved in Finasteride-reduced AML cell proliferation

May 2023 in “Blood cancer discovery”

Finasteride reduces AML cell growth by inhibiting androgen receptors.

research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10

22 citations , September 2014 in “JAMA dermatology”

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

research Deciphering the pathogenesis of central centrifugal cicatricial alopecia

September 2019

Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.

research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting

76 citations , June 2015 in “Journal of biomedical science”

Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.

research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development

30 citations , October 2014 in “PLOS ONE”

BAF200 is essential for proper heart and coronary artery formation.

research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

4 citations , October 2021 in “Journal of Clinical Medicine”

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

research Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis

2 citations , February 2024 in “Medicine”

A mutation in the IL2RA gene increases the risk of alopecia areata.

research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

September 2024 in “Journal of Medicine and Life”

A specific gene mutation causes a severe skin disorder in a family.

research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia

April 2018 in “Journal of Investigative Dermatology”

Mutations in Far2 mice cause hair loss due to sebaceous gland issues.

research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix

10 citations , January 2003 in “Dermatology”

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

research Transcription factor FOXC1 positively regulates SFRP1 expression in androgenetic alopecia

May 2021 in “Experimental Cell Research”

FOXC1 boosts SFRP1 in hair loss, suggesting new treatments.

research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse

January 2017

research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus

November 2012 in “Experimental and Clinical Endocrinology & Diabetes”

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB

research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene

January 2022 in “Mammalian Genome”

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

Aromatase Deficiency in a Male Patient: Case Report and Literature Review

research Aromatase deficiency in a male patient - Case report and review of the literature.

36 citations , October 2016 in “Bone”

A male with aromatase deficiency improved bone health with estradiol treatment.

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