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January 1992 in “PubMed” TGF-beta 1 and IGF-II mRNA have specific patterns in pig subcutaneous tissue, affecting fat and muscle development.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
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February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Gap junctions help control feather pattern formation by enabling cell communication.
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April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
During late pregnancy in rats, hormonal changes increased certain GABAA receptors in specific brain cells.
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January 2023 in “The FASEB Journal” CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” FP-1 is a key protein in rat hair growth, active only during the growth phase.
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
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February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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January 2016 in “Genetics and molecular research” Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
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October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
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September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
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November 2022 in “Journal of Investigative Dermatology” Low oxygen levels affect the behavior of certain proteins in human skin cells.