research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
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research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Systemic Vasculitis with Severe Cutaneous Manifestation as a Suspected Idiosyncratic Hypersensitivity Reaction to Fenbendazole in a Cat
A cat had a rare severe reaction to fenbendazole, but recovered with treatment.
research Revolutionizing Radiotoxicity Management with Mesenchymal Stem Cells and Their Derivatives: A Focus on Radiation-Induced Cystitis
Mesenchymal stem cells could help treat radiation-induced bladder damage but more research is needed to overcome current limitations.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research A 32‐year‐old woman with arthralgias and severe hypotension
Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
research A novel chitosan-peptide system for cartilage tissue engineering with adipose-derived stromal cells
The chitosan-peptide system helps cartilage regeneration using fat-derived cells.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.