11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
11 citations
,
May 2010 in “Pigment Cell & Melanoma Research” Two genes, Tabby and Ticked, determine cat coat patterns.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
1 citations
,
June 2023 in “Medicina” People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
114 citations
,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
41 citations
,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
29 citations
,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
4 citations
,
December 2022 in “Frontiers in Endocrinology” Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
Accurate prediction of eye, hair, and skin color in Latin American populations requires region-specific models and ethical guidelines.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
April 2023 in “Medizinische Genetik” Male-pattern hair loss is largely influenced by genetics, with key genes identified.
13 citations
,
July 2024 in “BMC Genomics” New genes and markers can help breed better cashmere goats.
3 citations
,
March 2023 in “International journal of molecular sciences” Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
1 citations
,
November 2025 in “Science Advances” Two gene variants cause white spots in cattle.
December 2022 in “IntechOpen eBooks” Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
292 citations
,
April 2024 in “Nature Reviews Disease Primers” Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
10 citations
,
September 2022 in “Animals” Certain genes affect udder shape in Holstein cows, important for health and milk production.
234 citations
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November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
79 citations
,
August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
78 citations
,
January 2013 in “Dermatology Online Journal” Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.