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This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.

Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.

This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.

This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.

This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.

In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.

This study identified a novel LZTR1 mutation associated with hybrid schwannoma and neurofibroma in a patient with schwannomatosis, but not all cases of hybrid tumors are linked to this condition.

In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.

This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.

This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.

This study found that inhibiting mTORC2 in glioblastoma cells reduced DNA repair and increased apoptosis, highlighting its potential role in cancer cell survival and DNA damage response.

A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.

This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.

This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.

This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.

This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

In this study, multiple cutaneous adverse effects were observed in patients with metastatic malignant melanoma receiving BRAF inhibitors, but most were well managed with appropriate treatment.

PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.

This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.

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 found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.