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This study established a rapid and accurate ultra-performance liquid chromatographic method for chemical fingerprinting and analyzing Platycladi cacumen, effectively distinguishing batches based on geographical and climatic conditions.

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.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

This study found that AR-007 degrades faster and has a stronger association with hsp70 than AR-014, suggesting it is less stable when bound to the androgen receptor.

This study developed an accurate and reliable HPLC-ESI-MS method for determining candesartan levels in human plasma, useful for pharmacokinetic studies.

This study found that cortexolone 17α-propionate showed strong topical antiandrogenic activity, outperforming progesterone and several known antiandrogens, but lacked systemic antiandrogenic effects in animal models.

This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.

This study found that specific genetic variants in the CYP21A2 and CYP19A1 genes were associated with severe acne vulgaris among Han Chinese, particularly in male patients.

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 review discusses the complex pathophysiology of polycystic ovary syndrome and reports no clinical trial results, emphasizing the need for better understanding to improve treatment options.

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

This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.

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 reported that structure-guided engineering of CYP154C2 mutants significantly improved the 2α-hydroxylation of androstenedione and testosterone, with enhanced conversion efficiency and substrate selectivity compared to the wild-type enzyme.

This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

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

This study developed a sensitive HPLC-MS/MS method for determining cyproterone acetate levels in human plasma and found no significant difference in its concentration between two oral formulations in bioequivalence testing.

This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

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 report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.

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.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.