6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
56 citations
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October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.
4 citations
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December 2022 in “Advanced science” SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
36 citations
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March 2002 in “Journal of Biological Chemistry” Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
18 citations
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June 2001 in “Journal of Investigative Dermatology” Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
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.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
30 citations
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July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
3 citations
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May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
3 citations
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October 1994 in “Journal of Labelled Compounds and Radiopharmaceuticals” Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.
93 citations
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September 2014 in “Diabetes” Lack of 5α-Reductase type 1 can lead to insulin resistance and liver problems.
March 2010 in “The Journal of Urology” Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
61 citations
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December 2001 in “Journal of Investigative Dermatology” Steroid sulfatase in hair follicles may be a target for treating hair loss.
23 citations
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December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
1 citations
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January 2003 in “Expert Opinion on Therapeutic Patents” Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.
19 citations
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August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
July 2020 in “European urology open science” Methylated gene parts may cause finasteride-resistance in some enlarged prostate patients.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.