14 citations
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May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
36 citations
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
May 2006 in “Frontiers in Neuroendocrinology” Progesterone and its metabolites affect myelin protein expression differently in male and female rat Schwann cells.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Blocking Prostaglandin D₂ may help treat hair loss.
1 citations
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August 2019 Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
38 citations
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March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
12 citations
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January 2018 in “Journal of Drug Delivery Science and Technology” The new particle system could be a promising treatment for diseases related to the 5-α reductase enzyme.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
5 citations
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June 2015 in “British Journal of Dermatology” A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
20 citations
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January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
39 citations
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December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
October 2023 in “Benha Journal of Applied Sciences” PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
The document's conclusion cannot be provided because the document is not available or cannot be read.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
A new genetic mutation was found causing hair and eye issues in a boy.
6 citations
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October 2014 in “Experimental Dermatology” Prostaglandins and the enzyme AKR1C3 could play a role in skin cancer and hair loss, and further research is needed to understand these mechanisms.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
April 2019 in “Journal of Investigative Dermatology” Differences in growth factors in platelet-rich plasma therapy for hair loss can vary between patients and can be influenced by the devices used, possibly leading to inconsistent results.