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This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.

This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.

This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

In this study on Chinese Tan sheep, researchers discovered a variant of the KRTAP19-5 gene associated with decreased curvature of fine wool fibres, highlighting potential genetic markers for improving wool quality.

This case study describes the clinical presentation and diagnostic findings of an 80-year-old woman with Cronkhite-Canada syndrome.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

This report presents a case of a CKD patient who, after contracting COVID-19, experienced a rapid decline in kidney function, hair loss, and spontaneous wart remission, highlighting a need for further investigation into these unexpected outcomes.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.

This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.

In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.

In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.

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.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study found that exosomes from hair follicle mesenchymal stem cells overexpressing lncRNA H19 promoted diabetic skin wound healing by enhancing cell proliferation, migration, and reducing pyroptosis.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.

This review consolidates current knowledge about Cronkhite-Canada syndrome, highlighting its symptoms, diagnostic challenges, and evolving treatment strategies, but reports no new clinical results.

This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

This case report describes a 19-year-old with Mayer-Rokitansky-Küster-Hauser syndrome developing alopecia areata totalis, discussing potential connections and treatment options like methylprednisolone pulse therapy, but reports no new clinical results.

This case report describes a 60-year-old woman with Cronkhite-Canada syndrome whose symptoms and polyposis improved following prednisolone therapy, but emphasizes the need for periodic digestive tract screening due to associated cancer risks.

A specific gene mutation causes severe skin and nail issues and hair loss.

This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.

This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.