11 citations
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July 2015 in “Journal of Anatomy” SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
14 citations
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January 2005 in “Cell Stress and Chaperones”
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
26 citations
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December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
11 citations
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October 2014 in “Gene” Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
36 citations
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January 2019 in “Nature communications” High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
January 2026 in “Therapeutics” SCUBE3 is a potential target for cancer and alopecia treatment but is challenging to target due to its varied roles.
75 citations
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July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
March 2021 in “Research Square (Research Square)” The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
3 citations
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August 2024 in “Molecular Biology Reports” LncRNA018392 helps goat skin cells grow by increasing CSF1R.
July 2008 in “VTechWorks (Virginia Tech)” PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
128 citations
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December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
49 citations
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January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.