This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
30 citations
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October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
April 2015 in “Journal of Nutritional Therapeutics” This study found that a more liberal intake of restricted amino acids in patients with methylmalonic acidemia resulted in improved growth and fewer illness episodes.
4 citations
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February 2016 in “Clinical Pharmacology & Therapeutics” Hair follicle samples effectively show how well the drug MK-0752 targets and engages with the Notch pathway.
21 citations
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February 1988 in “Toxicology” This study found that high doses of TCB caused severe toxicity in cotton top marmoset monkeys, with clinical and histological changes similar to those in humans and other primates exposed to PCBs.
8 citations
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March 2023 in “International Wound Journal” The researchers reported that several m6A-related genes, particularly IGF2BP3, were differentially expressed in keloid tissue compared to normal skin, indicating potential targets for understanding keloid pathogenesis and treatment.
February 2026 in “Biophysical Journal” 12 citations
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September 2021 in “Journal of molecular structure” In this study, researchers created a new molecular salt from minoxidil and 2,4-dihydroxybenzoic acid, finding it superior to raw minoxidil for promoting hair growth in a mouse model, suggesting it may be a promising candidate for treating hair loss.
28 citations
,
November 2013 in “Cell and Tissue Research”
April 2024 in “Current Rheumatology Reviews” This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
117 citations
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April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
42 citations
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September 2012 in “PLoS ONE” In this study, bezafibrate treatment improved certain aging-like features in a mouse model with mitochondrial dysfunction, but did not enhance muscle function or lifespan.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
29 citations
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October 2011 in “British Journal of Dermatology” This study found that four microRNAs, which were significantly upregulated in balding hair follicle papilla cells, could play a role in the development of male pattern baldness.
694 citations
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April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
131 citations
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March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
10 citations
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January 1992 in “Screening” This study concluded that newborn screening for biotinidase deficiency effectively identified cases and likely prevented irreversible complications from the disorder in some infants.
January 2007 in “Journal of Southwest University” This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
10 citations
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April 2020 in “Clinics in Dermatology” This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
February 2026 in “International Journal of Molecular Sciences” In this study, researchers identified 47 proteins associated with male pattern baldness severity and prioritized five candidate genes, including druggable CD38, suggesting new non-hormonal targets for therapeutic development.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.