May 2014 in “Transfusion and Apheresis Science” The study found that the quality of cord blood units remains consistent before freezing and after thawing, indicating that attached tube segments reliably represent the graft's properties.
January 2024 in “Wiadomości Lekarskie” In this case-control study, researchers investigated the association between SIRT1 gene polymorphisms and colorectal cancer risk, finding no statistically significant differences in polymorphism frequencies between patients and controls, but noted trends that warrant further study in larger populations.
13 citations
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January 2018 in “Advances in experimental medicine and biology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that HPV8-induced actinic keratoses may mechanistically involve Lrig1+ hair follicle keratinocyte stem cells, with the E6 gene promoting downstream STAT3 activity in a mouse model.
January 2025 in “Case Reports in Oncological Medicine” This case report emphasizes the need to consider Sertoli-Leydig cell tumors in the differential diagnosis of adnexal masses in patients with Peutz-Jeghers syndrome, noting that these tumors can present unusually with bilateral adnexal involvement.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
This review discusses central centrifugal cicatricial alopecia and emphasizes the need for more research to understand and manage the disease, while also suggesting initiatives like educating hairstylists for early detection.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
This study constructed a genomic map of copy number variations in fine-wool sheep, revealing their potential impact on traits like growth, nutrient metabolism, and susceptibility to selection pressures.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
This study mapped genome-wide copy number variations in Chinese indigenous fine-wool sheep, providing a valuable genetic resource for researching complex traits and genetic diversity in this species.
3 citations
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January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
19 citations
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January 2015 in “Skin appendage disorders” This study identified a new variety of central centrifugal cicatricial alopecia that includes patchy hair loss on the lateral and posterior scalp in African-American women, which could be misdiagnosed as traction alopecia without dermatoscopy and pathology.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
21 citations
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April 2008 in “Toxicologic Pathology” This study found that CI-1033 caused skin lesions in rats that resemble effects seen in humans receiving EGF receptor inhibitors, suggesting this animal model can help explore the mechanisms behind this cutaneous toxicity.
September 2024 in “Portuguese Journal of Dermatology and Venereology” This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
79 citations
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October 2003 in “PubMed” In this study, PKCepsilon transgenic mice showed increased TNFalpha shedding during skin tumor promotion, which may contribute to the development of metastatic squamous cell carcinoma.
11 citations
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July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
150 citations
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June 1999 in “Oncogene”
7 citations
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June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
3 citations
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November 2021 in “Frontiers in Genetics” This study suggests that the CXCL8 gene may regulate cashmere fineness in Liaoning cashmere goats, providing new insights into the cellular mechanisms of cashmere growth and quality.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.
March 2003 in “Oncology Times” This review discusses preclinical and clinical chemoprevention research for several cancers, noting challenges in effectiveness and toxicity, and emphasizes the need for further trials.
8 citations
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July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
3 citations
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October 2021 in “Turkish Journal Of Neurology” This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.
5 citations
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November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.