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This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.

This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.

This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.

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 reveals that CSPG4-positive basal cell keratinocytes show distinct global gene expression from CSPG4-negative cells, despite similar colony-forming efficiency.

This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.

This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.

This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.

This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.

This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.

This report presents a case where multiple steatocystomas appeared in a psoriatic patient during ustekinumab treatment, suggesting the drug may unmask a genetic predisposition to steatocystoma multiplex.

This case report documents successful virilization, including penile length increase, in a boy with partial androgen insensitivity syndrome using high-dose testosterone combined with anastrozole.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.

This study found that in squamous cell carcinomas, the inhibition of the tumor-suppressor function of TAp73β by ΔNp63α occurs through promoter squelching, not direct protein interaction.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.

This study investigated the TG5 gene polymorphism in Lithuanian beef cattle, finding that the CC genotype is associated with higher productivity traits, such as live weight and carcass weight, compared to other genotypes, and noted a statistically significant impact on these traits.

This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.

This study suggests that paeoniflorin's protective effects on brain astrocytes may be mediated by TSPO and neurosteroids biosynthesis.

This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.

In this study, PSA levels were significantly lower among African-American men with higher C-peptide levels and Caucasian men with higher HbA1c levels, suggesting a link between metabolic markers and prostate cancer detection.

This study reported that inhibiting the JAK-STAT pathway with baricitinib restored cellular homeostasis, delayed senescence, and reduced proinflammatory markers in Hutchinson-Gilford progeria syndrome cell models.

This article discusses how DNA-based phenotyping is used by police to create visual profiles of suspects from crime scene samples, but reports no new research findings.

This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.

This study found significant differences in gene expression, particularly in androgen receptor activity, between men with post-finasteride syndrome and healthy controls, suggesting a potential biological basis for the syndrome.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.