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Nail anatomy and physiology
Published in Archana Singal, Shekhar Neema, Piyush Kumar, Nail Disorders, 2019
Transcription factor R‐spondin 4 initiates nail development, and its mutation leads to congenital anonychia. Functional p63 is required for the formation and maintenance of the apical ectodermal ridge, which is an embryonic signaling center required for limb outgrowth and hand plate formation. So, mutations in p63 affect nail development in syndromes like ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome as well as ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome. Wnt7a is also important for dorsal limb patterning and, hence, nail formation. Primary signaling abnormalities in Wnt7a are also associated with inherited nail dysplasias such as Schöpf–Schulz–Passarge syndrome (Wnt10a). LMX1b and MSX1 are important for nail differentiation. LMX1b is mutated in nail-patella syndrome and MSX1 in Witkop syndrome. However, in contrast to follicular development, the Shh gene is not required for nail plate formation. In murine models, Hoxc13 is also an important homeodomain-containing gene for both follicular and nail development.2–4
Alopecia areata: Pathogenesis, clinical features, diagnosis, and management
Published in Jerry Shapiro, Nina Otberg, Hair Loss and Restoration, 2015
Hox genes, particularly homeobox C13 (Hoxc13), play a significant role in follicular proliferation and differentiation [136]. Transgenic Hoxc13 deficient mice were unable to synthesize hair keratins and had sparse brittle hair [136]. More knowledge of Hoxc13 expression in epidermal appendages will in turn provide further insight into the functioning of the normal ordered follicle, which in turn will allow us to understand the disordered follicle more clearly [137].
Analysis and clinical characteristics of acute myeloid leukemia developing with prior or concurrent tumors in non cyto- or radiotherapy exposure patients in a single center
Published in Hematology, 2023
Yu Lian, Juanjuan Ti, Liangming Ma, Jia Wei, Zhilin Gao
Notably, a patient was diagnosed with diffuse large B-cell lymphoma (DLBCL) six years after receiving chemotherapy for AML. The incidence of tMN following radio- or chemotherapy for lymphoma has been reported as 0.8-6.3% at 20 years, but secondary non-Hodgkin lymphoma with prior AML is quite rare and has only been reported in a few cases [12,13]. Therefore, we performed whole exome sequencing in tumor tissues and non-carcinoma adjacent tissues. We identified several germline mutations and selected cancer-predisposing genes via the Cancer Gene Census database (http://cancer.sanger.ac.uk/cancergenome/projects/census/). Mutations in CBLB, HOXC13, PTPRC, ERCC4, TSC1, SETBP1, and AHCTF1 were included: mutations in CBLB, HOXC13, and SETBP1 were more predisposed to AML; mutation of PTPRC was predisposed to T-ALL; and mutations of ERCC4 and TSC1 were predisposed to cancer of skin cells or renal and bladder cells, respectively.
Survival Outcome and Clinicopathologicl analysis of Homeobox gene cluster-embedded LncRNAs in Human Cancers: A Systematic Review and Meta-analysis
Published in Expert Review of Molecular Diagnostics, 2021
Min Gao, Zhigang Cui, Sixuan Li, Na Li, Lianwei Tong, Ying Wang, Mingyang Song, Baosen Zhou, Zhihua Yin
HOTAIR is the mainly LncRNA located on HOXC cluster, which is a well-known focus and has been widely explored oncogene in a substantial number of cancers [51–53]. The biological mechanisms of performing in massive neoplasms can be induced as follows: First, at transcriptional level: HOTAIR acts as a kind of trans-acting element, which specifically binds to cis-regulatory elements of target genes. For instance, HOTAIR influenced tumor expression and development by competing with several miRNAs for binding to specific target genes [54–57], it also induced the promoter activity and subsequently regulated the expression of cancer-related proteins [58–60]. Second, HOTAIR affected DNA methylation through H3 lysine 27 trimethylation (H3K27me3), DNMT1 and DNMT3b expression and promoted cancer metastasis by regulating polycomb complex chromatin modification [61–63]. Third, ectopic expression of HOTAIR also inclined to mediate the drug-resistance in part of malignant tumors, and enhanced the processing of the proliferation and invasion [64–67]. HOXC-AS, another LncRNA located in HOXC cluster, has been reported to be accelerated cell proliferation, migration, and EMT process in oral squamous cell carcinoma, nasopharyngeal carcinoma, and glioma [68–70], also played as a candidate hallmark of prognosis in neck squamous cell carcinoma and hepatocellular carcinoma [71,72]. In summary, LncRNA HOTAIR and HOXC13-AS can be regarded as promising biomarkers of diagnosis and prognosis in malignant tumors.