2 citations
,
May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
1 citations
,
July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
1 citations
,
January 2023 in “International Journal of Molecular Sciences” Understanding how Regulatory T Cells work could help create treatments for certain skin diseases and cancers.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
January 2026 in “Experimental Dermatology” Keratinocytes contribute to hidradenitis suppurativa by causing inflammation and worsening the condition.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
April 2025 in “Journal of Investigative Dermatology” Fibronectin is essential for hair follicle regeneration by supporting stem cells.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
November 2023 in “Nature Communications” Cells lacking the Bax protein can outcompete others, leading to better tissue repair and hair growth.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
224 citations
,
February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” ERG increases SOX9, promoting prostate cancer growth and invasion.
101 citations
,
September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
37 citations
,
December 2020 in “PLANT PHYSIOLOGY” A mutant FERONIA gene affects root hair growth at high temperatures.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
29 citations
,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
4 citations
,
June 2025 in “Cell Reports” Clonally expanded CD8+ T cells cause alopecia areata.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
Defective nuclear transport may cause gene expression changes in Progeria.
78 citations
,
November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
2 citations
,
August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
1 citations
,
August 2022 in “Biomedicines” Dutasteride, usually used for prostate issues and hair loss, could potentially treat Amyotrophic Lateral Sclerosis (ALS) due to its neuroprotective, antioxidant, and anti-inflammatory properties, but more testing is needed.
17 citations
,
July 2024 in “Frontiers in Oncology” New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.