15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
April 2018 in “Journal of Investigative Dermatology” The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
16 citations
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November 2018 in “Medicinal Chemistry” The compound GD-23 may reduce anxiety like diazepam by targeting the TSPO receptor.
30 citations
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June 2010 in “Endocrine Related Cancer” SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
43 citations
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January 2016 in “Oxidative medicine and cellular longevity” THSG from a Chinese plant helps with aging and related diseases.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
January 2016 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A substance called prostaglandin D2 is found more in bald scalps and it stops hair from growing. Blocking its receptor could potentially treat hair loss.
128 citations
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December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
1 citations
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April 2013 in “Journal of Investigative Dermatology”
86 citations
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August 2011 in “Toxicological sciences” TCDD speeds up skin barrier formation by increasing certain gene expressions.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.
8 citations
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August 2022 in “BMC Veterinary Research” C57BL/6 mice and SD rats have different sweat gland and hair follicle patterns, useful for skin research.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
9 citations
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September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” Prostaglandin D2 increases testosterone production in skin cells through a process involving reactive oxygen species, and antioxidants may help treat hair loss.
1 citations
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November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
3D culture better preserves sweat gland cell identity than 2D culture.
July 2023 in “International Journal of Molecular Sciences” N,N-Dimethylglycine Sodium Salt helps reduce skin inflammation and improves skin cell growth and healing.
23 citations
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July 2015 in “PubMed” PDGF and its receptors are crucial for stem cell growth and function.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
2 citations
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November 1996 in “Transplantation” Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
4 citations
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July 2020 in “Biochemical and Biophysical Research Communications” A protein called ectodysplasin-A2 increases a hair growth inhibitor in balding cells, which could be a target for hair loss treatment.
22 citations
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January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
1 citations
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November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.