22 citations
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October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
October 2023 in “The American Journal of Gastroenterology” This case report describes chronic iron deficiency anemia in a patient with Cronkhite-Canada syndrome, highlighting the need for more data to guide treatment and cancer surveillance due to its rarity and mortality risk.
January 2011 in “Xibei nongye xuebao” This study found that the K14 promoter exhibited higher activity in skin cell lines compared to other cell lines, while both K14 and K5 promoters were active in all tested cell lines.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” This case report detailed a 71-year-old male with Cronkhite-Canada syndrome and associated membranous nephropathy, who showed a significant improvement in skin and gastrointestinal symptoms, and remission of nephropathy, after treatment with rituximab, cyclosporine, and azathioprine.
6 citations
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October 2024 in “npj Digital Medicine” This study observed that patients with COVID-19 had many conditions and phenotypes that increased post-infection, varying by demographics and infection wave, which could enhance understanding and diagnostics of Long-COVID.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
May 2022 in “Liver transplantation” This source does not report original research findings but reviews the mechanisms and challenges of immune response and immunosuppressive management in liver transplantation.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study identified 4,942 differentially expressed genes and key candidate genes involved in the hair follicle development and cashmere quality differences between Jiangnan and Changthangi goats, highlighting potential molecular targets for genetic improvement of cashmere goats.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
3 citations
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January 2023 in “American journal of physiology. Cell physiology” This editorial reviews the roles and therapeutic potential of inward rectifying K+ channels in various physiological processes, highlighting their importance in health and disease but provides no new experimental results.
8 citations
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August 2023 in “Journal of Investigative Dermatology” This study reported that in a mouse tail wound model, the synthetic dual inhibitor corin accelerated wound closure by enhancing re-epithelialization, and further in vitro experiments demonstrated increased expression of genes promoting keratinocyte migration, suggesting its potential as a treatment for chronic wounds.
October 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Focus on general hair care and lifestyle changes.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study examined the skin transcriptomic differences between Jiangnan and Changthangi cashmere goats, identifying 4,942 differentially expressed genes that may contribute to variations in cashmere quality, with notable enrichment in various signaling pathways and structural components of hair follicles.
36 citations
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November 2018 in “BMC plant biology” This study suggests that ROXYs and reactive oxygen species are likely involved in the signaling pathways plants use to respond to nitrate deprivation.
May 2022 in “Gastroenterology” This study investigated the possible role of neutrophil extracellular traps in contributing to fibrosis in stenotic Crohn's disease.
1 citations
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December 2020 in “Journal of diabetes and endocrine practice” I'm sorry, but I can't provide a summary without the content of the document.
26 citations
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December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
7 citations
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October 2016 in “American Journal of Dermatopathology” This report discusses a 77-year-old man with primary onycholemmal carcinoma, a rare nail bed tumor, emphasizing its slow growth, diagnostic challenges, and treatment typically involving surgical removal.
2 citations
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August 2025 in “Reports — Medical Cases Images and Videos” In this case report, a rare melanotrichoblastoma tumor was identified in a 51-year-old female following the histological and immunohistochemical analysis of a lesion on the pubo-inguinal area, presenting with strong epithelial marker positivity and a low proliferative index.
2 citations
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March 2023 in “JAAD case reports” This case report describes the unexpected hair repigmentation surrounding a scalp tumor in a 74-year-old man, suggesting a potential link between the carcinoma and changes in hair pigmentation.
December 2021 in “Pathologica” This case report describes a rare instance of trichogerminoma with unusually numerous mitotic figures and a higher Ki67 proliferative rate, distinguishing it from previously documented cases.
36 citations
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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.
56 citations
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April 2019 in “The Plant Journal” This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.
18 citations
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July 2006 in “British Journal of Dermatology” This study reported no Cx30 expression in normal interfollicular human epidermis and minimal expression in some skin structures, with faint detection in porokeratosis of Mibelli patient skin.
40 citations
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March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.