50 citations
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June 1993 in “European journal of biochemistry” Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.
4 citations
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December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
1 citations
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May 2024 in “Dermatology and Therapy” Frontal Fibrosing Alopecia needs better diagnostics and treatments, with dutasteride showing promise.
July 2025 in “Journal of Investigative Dermatology” ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
5 citations
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January 2016 in “Skin appendage disorders” Frontal fibrosing alopecia might be linked to autoimmune diseases.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
September 2025 in “Development” Nelfb is crucial for forming skin fat tissue by regulating genes needed for fat cell development.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
9 citations
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November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
Understanding genetics is crucial for treating heart and skin diseases.
1 citations
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January 2022 in “European Journal of Pharmacology” Riboflavin 5′-phosphate (FMN) shows potential for treating androgen-related conditions but may be limited in treating prostate cancer.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
2 citations
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August 2022 in “Emergency medicine international” Keloid skin disorder involves abnormal fibroblast activation and immune response, linked to a group of genes including FGF11.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
32 citations
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
21 citations
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April 2019 in “Clinical, cosmetic and investigational dermatology” The document concludes that stopping shaving or removing affected hair can alleviate Pseudofolliculitis barbae (PFB).
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
November 2024 in “medRxiv (Cold Spring Harbor Laboratory)” Genetic factors affecting skin health and body weight may increase the risk of dermatophytosis.
39 citations
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.