5 citations
,
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.
16 citations
,
December 2006 in “International Journal of Dermatology” This clinical case study describes an aggressive squamous cell carcinoma developing within a giant epidermal cyst on the abdomen.
38 citations
,
January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
2 citations
,
October 2023 in “Cancer Reports” This study found that colorectal cancer patients could be categorized into two groups based on mitochondrial-related gene features, with distinct survival outcomes and tumor microenvironment characteristics, suggesting these features could inform individualized treatment plans.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
52 citations
,
May 1997 in “Journal of Biological Chemistry” This study suggests that polyamines regulate CK2 enzyme activity and its subcellular distribution, as demonstrated in mouse models and cell cultures with elevated levels of ornithine decarboxylase.
174 citations
,
November 2016 in “Cell stem cell” This study found that squamous cell carcinomas from hair follicle stem cells are more prone to epithelial to mesenchymal transition and metastasis than those from interfollicular epidermis, due to distinct chromatin landscapes.
1 citations
,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
5 citations
,
May 2008 in “Annals of saudi medicine/Annals of Saudi medicine” This case report from India observed that short-term cabergoline treatment brought clinical and biochemical remission in a 12-year-old with persistent Cushing disease after surgery and radiotherapy.
39 citations
,
February 1990 in “The journal of cell biology/The Journal of cell biology” This study identified trichohyalin as an early differentiation marker in hair follicles, with potential structural roles related to alpha-helical formations, based on the partial characterization of its cDNA in sheep.
25 citations
,
August 2007 in “Molecular Therapy” This study found that using ectopic expression of CD24 is a promising approach for selecting genetically modified human epidermal stem cells for safe cutaneous gene therapy in cancer-prone conditions.
5 citations
,
March 2020 in “Thoracic Cancer” In this phase I study, CT-707, a new ALK inhibitor, showed a 77% response rate among Chinese patients with advanced ALK-rearranged non-small cell lung cancer, suggesting clinical effectiveness despite some adverse events like diarrhea and liver enzyme elevation.
2 citations
,
December 2021 This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
67 citations
,
September 2001 in “American Journal Of Pathology” This study found that overexpression of the enzyme ornithine decarboxylase in transgenic mice led to UVB-induced skin tumors, but this was prevented by the ODC inhibitor α-difluoromethylornithine.
June 2024 in “British Journal of Dermatology” This study observed that Black women with central centrifugal cicatricial alopecia had a higher prevalence of uterine leiomyomas compared to those with lichen planopilaris, suggesting a potential association between the conditions.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
1 citations
,
September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
May 2025 in “BMC Genomics” This study found that circ 0020938 suppresses hair follicle stem cell proliferation by interacting with the miR-142-5p/DSG4 axis, which aids in the hair follicle cycle's proper progression.
1 citations
,
January 2008 3 citations
,
January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
64 citations
,
February 2008 in “Cancer Research” This study reports that eliminating both Trp53 and Rb genes in mouse epidermis accelerates aggressive squamous cell carcinoma development due to early activation of the epidermal growth factor receptor/Akt pathway.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
1 citations
,
October 2020 in “Research Square (Research Square)” This study identified a 505-bp indel variant in the FGF5 gene associated with cashmere growth in goats, which may serve as a molecular marker in cashmere goat breeding programs.
January 2019 in “Publisher” This study found that human basal cell and squamous cell carcinomas have distinct gene expression patterns, with specific up-regulation of zinc finger encoding genes in basal cell carcinoma.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
52 citations
,
February 2012 in “PloS one” This study found that the absence of Ctip2 in epidermal keratinocytes led to impaired wound healing in mice, affecting cell migration, proliferation, and hair follicle stem cell maintenance.