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Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation

Carla Borisch, Nick Heise, Kristina Sonnenschein, Nataliya Di Donato et al. • Stem Cell Research (2026)

Fabry disease (FD) is an X-linked, monogenic lysosomal storage disorder, caused by mutations in the GLA gene. GLA encodes the lysosomal hydrolase alpha-galactosidase A and enzyme deficiency leads to accumulation of its substrate globotriaos...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.scr.2026.104064

A Comparative Analysis of the Chloroplast Genomes of Four Polygonum Medicinal Plants

Shuai Guo, Shuai Guo, Xuejiao Liao, Xuejiao Liao et al. • Frontiers in Genetics (2022)

Polygonum is a generalized genus of the Polygonaceae family that includes various herbaceous plants. In order to provide aid in understanding the evolutionary and phylogenetic relationship in Polygonum at the chloroplast (cp) genome-scale l...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2022.764534

Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case

Eleni Z. Giannopoulou, Stefanie Zorn, Melanie Schirmer, Stephanie Brandt-Heunemann et al. • Molecular and Cellular Pediatrics (2026)

Abstract Background Melanocortin 4 receptor (MC4R) deficiency is the most common monogenic cause of obesity, yet remains underdiagnosed. Patients with monogenic obesity often undergo a frustrating diagnostic and therapeutic odyssey of years...

DOAJ Open Access (DOAJ) DOI: 10.1186/s40348-025-00214-z