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This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.

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.

This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.

In this study, CCCA patients were found to have higher odds of metabolic, autoimmune, atopic, and psychiatric comorbidities compared to matched controls.

This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.

This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.

This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.

In this case study, a 78-year-old Japanese woman with Cronkhite-Canada syndrome experienced mesenteric lymphadenopathy, which reduced in size after treatment with the corticosteroid prednisolone. This suggests that mesenteric lymphadenopathy, though uncommon in CCS, may respond to steroid therapy.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

This research found that human adipose stem cells maintained their immaturity and potential to differentiate into beige adipocytes in an endothelial growth medium, correlating with increased SOX2 expression linked to beige and brown adipocyte activation.

This study found that frequent attenders at Cork University Hospital's emergency department accounted for a disproportionate amount of visits and were more likely to require admission for further care.

This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.

This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.

In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.

This study developed a genetic toolbox to engineer Cutibacterium acnes for dermal applications, successfully creating a strain that secretes antioxidants to reduce oxidative stress in a UV stress model.

This study explored dermatoscopic and histopathologic findings of central centrifugal cicatricial alopecia beyond the vertex scalp, suggesting that dermatoscopy might serve as a less invasive diagnostic tool for subclinical disease.

This article reviews central centrifugal cicatricial alopecia, focusing on its multifactorial etiology and challenges in clinical diagnosis, and calls for more research and better treatment options.

This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.

This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.

This article reviews central centrifugal cicatricial alopecia, including its various forms and potential multifactorial causes, but provides no new clinical findings.

This abstract outlines the current understanding of cutaneous squamous cell carcinoma (cSCC), identifying it as the second most common non-melanoma skin cancer with risk factors like UV exposure and immunosuppression. It highlights cSCC's potential to metastasize and become fatal, affecting 2%-5% of in situ cases.

This study suggests that patients with severe, extensive central centrifugal cicatricial alopecia may exhibit a distinct gene expression pattern in the lesional scalp, highlighting potential targets for future research on disease severity and therapies.

This study provides insight into the specific disulfide bond interactions between keratins and keratin associated proteins, suggesting non-random cysteine interactions crucial for stabilizing hair fiber structure.

In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.

This article discusses the JCCP's new Premises Standards for aesthetic practitioners, focusing on how these guidelines help ensure patient safety, and reports no new research findings.