research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
Search
for
Sort by
Research
990-1000 / 1000+ results 
research A semisynthetic approach for the simultaneous reaction of grape seed polymeric procyanidins with catechin and epicatechin to obtain oligomeric procyanidins in large scale
Created large amounts of grape seed compounds using a new method.
research C-2-3 GND-VIAを用いたX帯SiGe-MMIC増幅器(C-2. マイクロ波A(能動デバイス), エレクトロニクス1)
Cancer prevention has advanced significantly, with some strategies proving successful.
research Implementation of the JCCP Premises Standards for cosmetic interventions
The JCCP's Premises Standards aim to make non-surgical cosmetic treatments safer and higher quality.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep that affect traits like milk production, growth, and health.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Anterior Cervical Discectomy fusion: Cervical PEEK Cage vs Dynamic Cervical Implant
The PEEK cage reduced pain more than the dynamic cervical implant, but the implant allowed slightly better movement after surgery.
research 4D polycarbonates via stereolithography as scaffolds for soft tissue repair
4D polycarbonate scaffolds show promise for soft tissue repair due to their biocompatibility, shape memory, and minimal immune response.
research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research Targeted Knockout of β-Catenin in Adult Melanocyte Stem Cells Using a Mouse Line, Dct::CreERT2, Results in Disrupted Stem Cell Renewal and Pigmentation Defects
Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.