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In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.

This study demonstrated that de novo designed bifunctional proteins can target and degrade BCL-xL, leading to cell apoptosis, suggesting a new approach to targeted protein degradation therapy.

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.

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.

This study reports that transgenic mice carrying Clone B DNA developed spontaneous melanomas likely due to an interruption in genes regulating cell growth in melanin-producing cells, offering a model for melanoma research.

This study found that adults with β-thalassemia major had a significantly higher prevalence of skin, hair, and nail disorders compared to healthy controls, influenced by factors like age, gender, and ferritin levels.

This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.

This study found that finasteride-induced DHT deficiency altered estrogen receptor expression in the epididymis, potentially destabilizing its function.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.

This study found that BDNF gene polymorphism was significantly associated with depression in patients with autoimmune thyroiditis and hypothyroidism in the Western Ukrainian population, unlike VDR and NMDA polymorphisms.

This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.

In this study, TASP0382088 showed potent selective inhibition of the ALK5 receptor, significantly reducing Smad2 phosphorylation in mouse skin following topical application.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.

This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

In this study, Akt2 and the oncogenic protein Tcl1 were found to be essential for early blastomere proliferation and embryo development in preimplantation mouse embryos.

This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.

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 found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.

This case report describes a 90-year-old man diagnosed with wild-type transthyretin cardiac amyloidosis, confirmed by pyrophosphate cardiac scintigraphy and exclusion of gene mutations.

This study found that aged tritiated thymidine breaks down and incorporates into cytoplasmic macromolecules, not DNA, suggesting caution in its use.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.

This study presented at the ASCO Annual Meeting reported that the epidermal growth factor receptor antibody ABX-EGF showed preliminary efficacy in renal cell cancer patients, with tolerable side effects, while bortezomib demonstrated clinical benefit in a significant proportion of multiple myeloma patients.

This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

This study found that hair from mice with the Naked trait mutation has significantly lower levels of glycine and tyrosine, suggesting a deficiency in a specific protein fraction.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.