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This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.

This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.

In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.

This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.

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

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

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 mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.

This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.

This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.

In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.

This review discusses potential immune therapies targeting regulatory T cells for age-related diseases and emphasizes the need for further research to translate these therapies into clinical practice.

This review highlights the potential of PROTAC technology in drug discovery for previously undruggable targets, particularly in cancer therapy, while emphasizing the urgent need to discover more E3 ligase recruiters to optimize targeted protein degradation.

This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.

This review discusses how targeting protein degradation processes may help overcome cancer drug resistance, but reports no new clinical results and suggests further research for precise therapeutic strategies.

This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.

This review detailed the significant progress and challenges in the design and application of PROTACs, a novel class of cancer therapeutics, highlighting their clinical trials, design complexities, and the role of artificial intelligence in improving their efficacy and selectivity for cancer therapy.

This study found that among Large White × Min pigs, 15 significant copy number variation regions were associated with villi hair traits, and identified candidate genes potentially linked to cold resistance, suggesting implications for breeding cold-resistant pigs.

This study conducted a genome-wide association analysis on 1,125 ewes and identified 24 SNPs associated with wool production traits, and highlighted potential candidate genes like ADAR and TP53 for further research into the genetic mechanisms influencing wool growth in sheep.

This article proposes using the hallmarks of ageing and dysregulated microRNAs to create a molecular morbidity score that could improve prognostication and clinical trial inclusion for patients with multimorbidity.

In this study, researchers used the CRISPR/Cas9 system to edit the FGF5 gene in Dorper sheep, observing increased density and finer wool, along with changes in cortisol levels and antioxidant enzyme activity linked to hair follicle development.

This study analyzed gene expression profiles from multiple tissues to explore the molecular connections between obesity and immune-related processes, identifying potential links and pathways that may require further experimental validation to understand their roles in obesity fully.