20 citations
,
March 2014 in “Molecular Endocrinology” This study suggests that NFIB and STAT5 work together to control cell-specific genetic programs in mammalian tissues, particularly in mammary and hair follicle stem cells.
66 citations
,
May 2002 in “The Plant Journal” This study identified a mutant in Arabidopsis with shorter root hairs due to early growth cessation, implicating the IRE gene in regulating root hair growth duration.
157 citations
,
October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
14 citations
,
January 2011 in “The International Journal of Developmental Biology” This study showed that coexpression of TG2 and Gbx1 in the epidermis is necessary for esophagus-like mucosal transdifferentiation, with TGF-beta2 in the dermis essential for the process through epithelial-mesenchymal interaction.
January 2012 in “Else Kröner-Fresenius Symposia” This symposium reported that DNA damage accumulation in aging stem cells affects genome integrity, highlighting novel mechanisms like Bmi1's role in DNA repair and the involvement of BATF in lymphoid differentiation.
March 2026 in “Animal Models and Experimental Medicine” In a dermal Gorab knockout mouse model, this study found that Gorab mutations increase P53 protein accumulation and disrupt extracellular matrix expression, contributing to accelerated skin aging and suggesting a pathway involving epigenetic regulation.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
March 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found that a positive feedback loop involving RHD2, reactive oxygen species, and calcium ions helps maintain root hair growth sites and influences cell shape in Arabidopsis thaliana.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
3 citations
,
March 2017 in “Pediatric Dermatology” This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
3 citations
,
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.
93 citations
,
May 2010 in “European Journal of Cancer” This phase II trial found that BI 2536 demonstrated limited antitumor activity across five solid tumor types, with no confirmed objective responses observed.
33 citations
,
February 2016 in “Journal of Experimental Botany” This study found that the receptor kinase RHS10 negatively regulates root hair growth in Arabidopsis thaliana by modulating growth duration and is associated with cell wall signal mediation, involving RNA catabolism and ROS accumulation.
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
8 citations
,
July 2024 in “PLoS ONE” In a comparative genomic study, researchers observed significant genetic differences among the three chemical races of the alga Botryococcus braunii, leading them to propose reclassifying these races as distinct species based on their unique genomic characteristics.
60 citations
,
October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
512 citations
,
February 2008 in “Science” In this study, researchers found that a positive feedback loop involving Ca 2+ and RHD2 NADPH oxidase-derived ROS helps maintain growth sites, crucial for root hair development and cell shape in Arabidopsis thaliana.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
48 citations
,
October 2004 in “Molecular and Cellular Biology” In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.