1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
January 2026 in “Advanced Science” Increasing XIAP and DDRGK1 can help prevent hearing loss from loud noise.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
1 citations
,
April 2015 in “InTech eBooks” RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
6 citations
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June 2021 in “EClinicalMedicine” ALRV5XR significantly improves hair density in women with hair loss and is well-tolerated.
4 citations
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November 2023 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is safe for treating alopecia areata for up to 48 weeks.
75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
8 citations
,
January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
6 citations
,
September 2019 in “Skin pharmacology and physiology” RCS-01 therapy is safe and may improve skin structure by affecting gene expression.
61 citations
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April 2014 in “Radiation Research” RTA 408 cream protects mice from radiation skin damage.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
36 citations
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July 2022 in “Journal of Medicinal Chemistry” Therapies targeting the androgen receptor are being developed to treat prostate cancer and improve bone and muscle health.
2 citations
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January 2008 in “Oxford University Research Archive (ORA) (University of Oxford)” August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” DHT enhances androgen receptor activity more than testosterone, and MAGE-11 influences this activity through specific interactions.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
17 citations
,
February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
89 citations
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August 2013 in “PloS one” Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
January 1993 in “Claves de razón práctica” ROR2 is crucial for hair follicle stem cell maintenance and self-renewal.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
13 citations
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June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
2 citations
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November 2017 in “Elsevier eBooks” Different substances that activate or block the androgen receptor can affect male development and treat conditions like prostate cancer.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
1 citations
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June 2018 in “World rabbit science” Different miRNAs in Rex rabbit skin affect cell processes and hair growth.