A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
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.
107 citations
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April 2014 in “The Plant cell” The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” EAAT4 decreases with age, harming skin function and calcium balance.
April 2020 in “The FASEB journal” Poncirin is a promising inhibitor of Janus Kinase 3, potentially better than tofacitinib.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
1 citations
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August 2016 in “Dermatology - Open Journal” Mitochondria change shape to meet energy needs during cell movement.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
June 2025 in “International Journal of Nephrology and Renovascular Disease” PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
324 citations
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May 2002 in “Oncogene” 280 citations
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January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
23 citations
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
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.
4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.