11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
12 citations
,
May 2017 in “Pharmacology & therapeutics” Targeting immune tolerance issues in Alopecia Areata could restore hair growth and maintain remission.
1 citations
,
April 2023 in “Science Advances” High levels of ERK activity are key for tissue regeneration in spiny mice, and activating ERK can potentially redirect scar-forming healing towards regenerative healing in mammals.
November 2020 in “Journal of The American Academy of Dermatology” Certain immune markers may predict chemotherapy response in mesothelioma, and nivolumab is a tolerable and effective treatment for advanced non-small cell lung cancer.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
8 citations
,
March 2017 in “Journal of Cosmetic and Laser Therapy” Punch grafting treats vitiligo faster but can cause a cobblestone look, while follicular hair transplantation is slower but looks better and has no side effects.
1 citations
,
October 2025 γδ T cells help control tissue scarring and blood vessel growth in response to foreign objects.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
12 citations
,
July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
6 citations
,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
57 citations
,
November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.