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This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This study found that deleting Ube2n in adult mouse skin leads to inflammation and other skin changes, and identifies IRAK1/4 as potential treatment targets for inflammatory skin disorders.

This study found that Hirosaki hairless rats experience transient activation of STAT5A in the mammary glands during early lactation, involving O-GlcNAc modification rather than Tyr-phosphorylation.

This study found that the Arabidopsis cation chloride cotransporter CCC1 is critical for regulating pH in the trans-Golgi network/early endosome, impacting plant growth and stress response.

This review discusses the regulation of the MiT-TFE family transcription factors, particularly TFEB, through phosphorylation-mediated subcellular localization and reports no new clinical results.

This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.

In this study using a transgenic mouse model, Id2 overexpression in hair follicle stem cells prolonged quiescence by affecting gene expression, partly independent from BMP signaling.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.

This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.

This study found that CI-1033 caused skin lesions in rats that resemble effects seen in humans receiving EGF receptor inhibitors, suggesting this animal model can help explore the mechanisms behind this cutaneous toxicity.

This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.

This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.

This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.

This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.

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.