184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
135 citations
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August 1994 in “Clinical Endocrinology” Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.
86 citations
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May 2008 in “Cytokine & growth factor reviews” TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
75 citations
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June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
26 citations
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September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
21 citations
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January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
15 citations
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October 2014 in “Journal of Investigative Dermatology” New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
8 citations
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January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
8 citations
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December 1981 in “Journal of The American Academy of Dermatology” The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
7 citations
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February 2021 in “Dermatologic Therapy” Sebaceous glands are involved in various skin disorders, some treatable with medications like finasteride and minoxidil.
7 citations
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November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
6 citations
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
4 citations
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July 2014 in “International Journal of Dermatology” Twins had rare skin cysts likely due to genetics.
2 citations
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July 2022 in “Cureus” A rare skin disorder affecting the face was found in a 28-year-old Saudi man.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
2 citations
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January 2017 in “Journal of Pigmentary Disorders” Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
1 citations
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October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
1 citations
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December 2016 Researchers created a model to understand heart aging, highlighting key genes and pathways, and suggesting miR-208a as a potential heart attack biomarker.
1 citations
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May 2016 in “The Nurse Practitioner” Treating PCOS is complex, involving medication like metformin and lifestyle changes, and requires attention to mental health due to high depression and anxiety rates.
1 citations
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September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
January 2026 in “International Journal of Science and Research (IJSR)” Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
September 2024 in “Cureus” A 10-year-old boy's nail condition is mainly cosmetic and improves over time with treatment.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
September 2023 in “Cureus” Nails can reveal important health information about skin and body conditions.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
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.