99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
92 citations
,
January 2012 in “International Journal of Biological Sciences” The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
76 citations
,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
70 citations
,
January 2014 in “International review of cell and molecular biology” Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
50 citations
,
January 2016 in “The Journal of Clinical Endocrinology and Metabolism” Certain microRNAs in the fluid around eggs are linked to Polycystic Ovary Syndrome and may help diagnose it.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
29 citations
,
December 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
21 citations
,
February 2016 in “Reproductive Biomedicine Online” The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
11 citations
,
January 2000 in “Journal of Cutaneous Pathology” Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
10 citations
,
October 2017 in “Pediatric neurology” Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
9 citations
,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
8 citations
,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
7 citations
,
July 2014 in “Reproductive Biomedicine Online” The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” c-Kit is important for heart regeneration and cancer development.
research Acne
4 citations
,
January 2019 Acne is a common skin condition that can be influenced by diet, lifestyle, and hormones, and requires a treatment approach that includes psychological considerations.
4 citations
,
November 2014 The skin protects the body, regulates temperature, senses touch, and makes vitamin D.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
3 citations
,
June 2020 in “Developmental Cell” Feather patterns are influenced by enhancers and chromatin looping, and the structure of protein complexes important for hair growth has been detailed.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
1 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
1 citations
,
May 2017 in “InTech eBooks” Hair loss in Androgenetic alopecia (AGA) is due to altered cell sensitivity to hormones, not increased hormone levels. Hair growth periods shorten over time, causing hair to become thinner and shorter. This is linked to miscommunication between cell pathways in hair follicles. There's also a change in gene expression related to blood vessels and cell growth in balding hair follicles. The exact molecular causes of AGA are still unclear.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
December 2024 in “Turkish Journal of Forensic Medicine” Next-Generation Sequencing improves forensic analysis by providing detailed genetic information quickly.