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In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.

In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.

This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.

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 observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study defined menstrual phase-specific reference intervals for circulating androgen levels in young women, highlighting that anovulatory females showed higher androgen, LH, and FSH levels compared to ovulatory females.

This report describes an outbreak of catheter-related infections by ESBL-producing E. coli in calves at an animal teaching hospital, highlighting the risk of these strains becoming nosocomial and increasing mortality and antibiotic use.

This study presents a method using liquid chromatography tandem mass spectrometry to quantify biotin in plasma and serum, and explores how high biotin intake can interfere with diagnostic immunoassays that utilize biotin-streptavidin technology, potentially leading to misdiagnosis of endocrine disorders.

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 describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.

In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.

This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.

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 review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.

In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.

This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.

This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.

This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.