10 citations
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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
4 citations
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May 2021 in “The American Journal of Surgical Pathology” Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
3 citations
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September 2020 Dyclonine can effectively reduce skin issues by inhibiting the TRPV3 channel.
2 citations
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April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
467 citations
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October 2014 in “European Journal of Endocrinology” The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
16 citations
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February 2018 in “European Journal of Endocrinology” Diagnosing hyperandrogenism in women is complex and requires accurate testing methods and consideration of SHBG levels.
14 citations
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January 2018 in “Advances in Clinical Chemistry” The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
3 citations
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May 2018 in “The American Journal of Medicine” A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
7 citations
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December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
14 citations
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May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.
October 2022 in “Research Square (Research Square)” The conclusion is that certain chemicals from Bacillus subtilis help improve plant root growth through a hormone-related process.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
February 2018 in “InTech eBooks” PCOD is a complex condition with unclear causes and varied treatments.
22 citations
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January 2017 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” A new method accurately measures nine specific hormones in human blood.
February 2024 in “ACS Omega” The Shen Bai Hair Growing Decoction may help treat hair loss by promoting hair growth and reducing inflammation.
3 citations
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May 2022 in “Clinical endocrinology” Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
21 citations
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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.
30 citations
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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.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
93 citations
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July 2006 in “Journal of Investigative Dermatology” K25, K27, and K28 are found in all inner root sheath layers of hair, while K26 is only in the cuticle.
86 citations
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April 2009 in “Journal of anatomy” Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.