27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
2 citations
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July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
21 citations
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January 2021 in “Frontiers in Pharmacology” Thiopurines help treat IBD but require genetic testing to avoid side effects.
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.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
73 citations
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June 2008 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
14 citations
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January 2005 in “Cell Stress and Chaperones” 34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
216 citations
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June 2015 in “PLANT PHYSIOLOGY” OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
24 citations
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January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
14 citations
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February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
37 citations
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January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
2 citations
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December 2024 in “Journal of Cosmetic Dermatology” SNP profiling allows personalized skincare treatments for better results and fewer side effects.
December 2022 in “Cumhuriyet medical journal” Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
23 citations
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March 2023 in “eLife” Stem cell differentiation involves gradual chromatin changes and dynamic gene activity.
13 citations
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November 2007 in “Journal of Structural Biology” Keratin heterodimers are preferred for their specific and structural advantages.
April 1981 in “Pediatric research” Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
7 citations
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June 2015 in “EMBO Reports” Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.