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This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

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 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 review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.

In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.

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 case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.

This study suggests that CSLD1 is key to nitrogen-dependent root hair elongation and regulation of AMT1;2 expression in rice roots.

This study introduces a new device for measuring changes in hair stiffness and lubricity, which can help predict the effects of various hair treatments.

This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

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.

This study engineered a bioluminescent yeast strain responsive to androgenic chemicals, demonstrating rapid and sensitive detection suitable for high-throughput screening and environmental monitoring.

This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This study found that overexpression of the SbbHLH85 gene in sweet sorghum increases root hair growth and Na+ absorption, but negatively affects salt tolerance.

This study introduced Cadd4, a peptide-based degrader developed using computer-aided drug design, which effectively reduced PCSK9 levels and increased LDL receptor expression, resulting in decreased plasma cholesterol and LDL-C levels in hypercholesterolemic mice, without liver toxicity.

This study introduced laser particles as a new imaging probe capable of real-time tracking of thousands of individual cells in 3D tumor models, suggesting potential for advanced single-cell analyses.

This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.

This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.

This research found that deleting the SLC3A2 gene in hair follicle stem cells disrupts their maintenance and proper differentiation, leading to hair follicle growth defects and altered skin regeneration through a YAP/Taz-dependent pathway.

This review discusses the acyl-CoA synthetase very-long-chain (ACSVL) enzyme family, including its biochemical characteristics, tissue expression, and involvement in lipid metabolism, but presents no new experimental results.

This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.