6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that tofacitinib may inhibit CD8+ T cell infiltration in alopecia areata by affecting the linoleic acid metabolism-Mg2+ pathway in a sodium sulfide-induced mouse model, highlighting new insights for clinical diagnosis and treatment strategies.
1 citations
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September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
June 2017 in “Journal of the American Academy of Dermatology” In this retrospective study, tofacitinib was found to be effective and well-tolerated for treating severe alopecia areata, with 77% of patients achieving a clinical response over 4-20 months, though results were more favorable for patients with less extensive hair loss.
January 2007 in “Frontiers in Medicine” This study found that tofacitinib was an effective and better-tolerated treatment for moderate-to-severe AA compared to SCs, though its efficacy decreased in patients with disease episodes longer than two years.
October 2022 in “BMC genomics” This study investigated adenosine-to-inosine RNA editing in the hair follicle cycle of Tianzhu white yak, identifying numerous editing sites and suggesting their involvement in pathways related to hair growth.
12 citations
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January 2013 in “International Journal of Genomics” In this study, researchers used mRNA sequencing to identify and categorize over 49,000 contigs in goat skin, revealing significant gene activity related to metabolism, cell cycle, and cell division during hair growth.
9 citations
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October 2025 in “MedComm” This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.
1 citations
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October 2023 in “Animals” This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
20 citations
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March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
92 citations
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December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
November 2023 in “Indian Dermatology Online Journal” This study found that tofacitinib was safe and effective for patients with severe or treatment-resistant alopecia areata, alopecia totalis, and alopecia universalis, resulting in significant hair regrowth for most participants.
2 citations
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July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
39 citations
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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.
January 2026 in “OSF Preprints (OSF Preprints)” In this study, researchers presented a novel therapeutic approach for androgenetic alopecia combining AR-PROTAC degradation with regenerative strategies and evaluated the potential of GT20029 as a topical treatment, proposing a three-phase protocol and future research hypotheses.
32 citations
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November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
November 2022 in “Journal of Investigative Dermatology” This study generated a transcriptomic map of human hair follicle compartments, providing a database for identifying compartment-specific gene expression which may aid in developing targeted treatments for hair follicle disorders.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
March 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that prolonged tofacitinib treatment in adult Indian patients with moderate-to-severe alopecia areata was associated with a high regrowth rate, which varied with factors like age at disease onset and treatment duration.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
6 citations
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February 2025 in “Scientific Reports” This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
6 citations
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November 2019 in “The application of clinical genetics” This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.
28 citations
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December 2017 in “Journal of Investigative Dermatology Symposium Proceedings” This review summarizes findings on the long-term use of tofacitinib for severe alopecia areata, reporting its potential as a promising treatment option.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
16 citations
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February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.