This case report describes a 72-year-old woman with obstructive sleep apnea syndrome (OSAS) linked to a novel genetic variant, c.980_984dup, in the COL1A2 gene, marking the first documented instance of hereditary OSAS due to this mutation. The patient, who had a history of insomnia and other medical issues such as joint hypermobility and hair loss, showed improvement with nocturnal active positive airway pressure treatment. Her son also developed OSAS, prompting genetic testing that identified the COL1A2 mutation. This finding suggests that OSAS can be hereditary and associated with connective tissue disorders, highlighting the importance of genetic testing in patients with a family history of OSAS.
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
4 citations
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September 2016 in “Molecular Medicine Reports” Specific genes influence hair and cashmere growth in Laiwu black goats.
1 citations
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January 2025 in “Proceedings of the National Academy of Sciences” LPAR6 has a unique way of binding and activating, which helps in designing treatments for hair loss and cancer.
35 citations
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July 2009 in “Optics express” Researchers created a new light source that improves chemical imaging by removing background noise.
44 citations
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May 2008 in “Plant journal” D'orenone stops root hair growth by disrupting auxin transport, but adding auxin can reverse this.
28 citations
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November 2013 in “Cell and Tissue Research” 
June 2025 in “Animal Bioscience” miRNA-24 affects goat coat color by controlling proteins involved in pigment production.
August 2020 in “OPAL (Open@LaTrobe) (La Trobe University)” 34 citations
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January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
16 citations
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May 2020 in “Plant Growth Regulation” 
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
Defective protein folding due to a mutation is key in ANE syndrome.
26 citations
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January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
4 citations
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December 2023 in “Medicine” Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.
6 citations
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January 2020 in “International journal of biological sciences” Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
22 citations
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March 2017 in “Scientific reports” Double-stranded RNA causes inflammation in hair follicle cells, which may help understand and treat alopecia areata.
57 citations
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July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
32 citations
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August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
7 citations
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August 2020 in “Animal biotechnology” A specific RNA in cashmere goats helps improve hair growth by interacting with certain molecules.
November 2022 in “Journal of Investigative Dermatology” Low oxygen levels affect the behavior of certain proteins in human skin cells.