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This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.

This study found that glioblastoma cancer stem cells avoid immune suppression by downregulating TLR4, and restoring TLR4 signaling may reduce tumor growth and self-renewal.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This study found that overexpression of Gasdermin A3 in mice disrupts the hair follicle stem cell niche and causes hair loss through cell necrosis and abnormal hair cycle progression, without involving immune-mediated mechanisms.

This study found that increased PHGDH expression in mice led to earlier melanin and melanocyte presence in hair follicles but did not induce cancer.

This study found that BCG injection in COVID-19 convalescent adults reduced long COVID symptoms like hearing and cognitive issues but also led to increased hair loss in women at six months.

This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

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.

This study found that glibenclamide exhibited a cytostatic effect on MDA-MB-231 breast cancer cells, potentially mediated through K ATP channels, and enhanced the antiproliferative impact of doxorubicin.

This study found that children with celiac disease who adhered to a gluten-free diet experienced significant improvements in height, weight, and symptoms like diarrhea and abdominal pain, although cases of abdominal distention increased.

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.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.

This study found that gamma-ray exposure on the day of fertilization or the day after increased genome editing efficiency in pregnant mice using the i-GONAD method, potentially aiding in the creation of diverse experimental animal models.

In this study, a TGF-β mimic molecule from Heligmosomoides polygyrus was observed to enhance wound healing in mice, with improved tissue regeneration and specific immune cell recruitment without increased scarring.

In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.

This study found that Wnt5a regulates hair follicle differentiation in mice by mediating epithelial-mesenchymal interactions and influencing dermal papilla cell activities.

This study found that in wild-type Arabidopsis plants, root hair growth is suppressed with increased nutrient availability, with RHD6 subfamily genes down-regulated and GTL1 and DF1 genes influencing root hair morphology under these conditions.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This study found that a patient with giant axonal degeneration had unique hair abnormalities such as trichorrhexis nodosa and altered S:N ratios, unlike her relatives but comparable to unrelated controls.

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.

This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

This study found that high skin expression of amphiregulin in acute graft-versus-host disease was associated with severe disease grade, poor overall survival, and increased non-relapse mortality.

AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.