18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
2 citations
,
December 2024 in “BMC Genomics” Key genes and pathways control sheep hair growth phases.
2 citations
,
September 2019 in “Romanian Journal of Pediatrics” Fetal skin can heal without scarring, offering insights for new scar-reducing treatments.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Lef1 helps adult skin cells maintain their ability to heal wounds and regenerate hair, but the study's methods and conclusions have been questioned.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
122 citations
,
June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
16 citations
,
September 2018 in “Clinical Biochemistry” The document concludes that more research is needed to fully understand the causes of PCOS.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
15 citations
,
January 2019 in “Gynecological Endocrinology” The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.
12 citations
,
December 2017 in “Gynecological Endocrinology” About 5% of Thai university girls aged 17-19 have polycystic ovary syndrome, with moderate acne being a strong risk factor.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
10 citations
,
October 2000 in “PubMed” E6/E7 oncogenes in hair follicles cause continuous hair growth by skipping the resting phase.
7 citations
,
October 2022 in “Development” Overactive Wnt5a disrupts hair follicle orientation in mice.
November 2025 in “IntechOpen eBooks” PCOS causes sexual dysfunction, needing comprehensive treatment.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
PCOS requires personalized treatment to improve life quality and reduce health risks.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
September 2022 in “Women's healthcare” PCOS is managed by lifestyle changes and personalized medication to improve symptoms and fertility.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
The article concludes that better diagnosis and management of Polycystic Ovarian Syndrome are needed to improve women's health and prevent related diseases.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
April 2019 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles may boost hair growth by enhancing energy production and blood vessel formation.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
22 citations
,
June 2004 in “Journal of The European Academy of Dermatology and Venereology” A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.