41 citations
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October 2008 in “The American journal of pathology” Blocking a specific protein signal can make hair grow on mouse nipples.
10 citations
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October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
11 citations
,
May 2023 in “Journal of Cancer Research and Clinical Oncology” CRISPR/Cas systems show promise for cancer treatment by targeting miRNAs, but delivery and specificity challenges remain.
68 citations
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July 2011 in “Journal of Biochemistry/The journal of biochemistry” New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
64 citations
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November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
9 citations
,
December 2020 in “International Journal of Medical Sciences” iPSCs help understand and treat neurodevelopmental disorders.
3 citations
,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
27 citations
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January 2012 in “Current Topics in Microbiology and Immunology” Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
22 citations
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October 2004 in “Journal of Investigative Dermatology” The gene causing hair loss and heart issues in rough coat mice is still unknown.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
40 citations
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February 1946 in “Canadian Journal of Research/Canadian journal of research” Hereditary factors cause hair loss in mice by affecting skin and hair follicle structure.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
55 citations
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November 2010 in “Development” Hair follicles in mutant mice self-organize into ordered patterns within a week.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
13 citations
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April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
7 citations
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October 2012 in “Anais Brasileiros de Dermatologia” A patient had both white piedra and head lice, showing their differences.
6 citations
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December 2015 in “International journal of immunopathology and pharmacology” AE can have varied symptoms and genetic causes, but zinc therapy helps.