Yukiko Kuroda,Koki Nagai,Yasuhiro Kawai et al. Yukiko Kuroda et al.

RNU4-2 encodes U4 small nuclear RNA (snRNA), a non-coding RNA forming the spliceosome complex via the U4/U6 snRNA duplex. RNU4-2 heterozygous variants cause ReNU syndrome, which is characterised by intellectual disability, developmental del...

Hongjun Fei,Xu Han,Yiyao Chen et al. Hongjun Fei et al.

Background: To identify the genetic variants underlying neurofibromatosis type 1 (NF1) and to investigate genotype-phenotype correlations. Methods: ...

Curtis A Lachowiez,Mael Heiblig,Gaspar Aspas Requena et al. Curtis A Lachowiez et al.

Resistance to venetoclax-based therapy in acute myeloid leukemia (AML) includes genetic (i.e., mutations in N/KRAS, FLT3-ITD, TP53) and phenotypic (i.e., monocytic differentiation) features. Whether monocytic differentiation contributes to ...

Susan M McAnallen,Elhussein A E Elhassan,Sinead Stoneman et al. Susan M McAnallen et al.

Background and hypothesis: Podocytopathy associated with likely pathogenic/pathogenic variants of TRPC6 (TRPC6-AP) has been recognised for about 20 years. As a result of its rarity however, the spectrum of clinical phenot...

Silje F Jørgensen,Peder R Braadland,Thor Ueland et al. Silje F Jørgensen et al.

Background: A large proportion of patients with common variable immunodeficiency (CVID) have autoimmune and inflammatory manifestations characterized by chronic T-cell- and monocyte/macrophage activation of unknown etiolo...

Hidehiro Toh,Wan Kin Au Yeung,Motoko Unoki et al. Hidehiro Toh et al.

The X-linked orange (O) locus in domestic cats controls an unknown molecular mechanism that causes the suppression of black-brownish pigmentation in favor of orange coloration. The alternating black-brownish and orange patches seen in torto...

Manuela Lo Bianco,Federica Sipala,Xena Giada Pappalardo et al. Manuela Lo Bianco et al.

Carlos Hernández Quiles,Ana Casado Díaz,Aurora González Estrada et al. Carlos Hernández Quiles et al.

Wenkai Guo,Yuansheng Xie,Pengcheng Ji et al. Wenkai Guo et al.

Fabry disease, a rare genetic disorder affecting multiple organs, has understudied correlations among enzyme activity, genotype, and clinical manifestations in patients of different sexes with classical and late-onset phenotypes. In this st...

Nupoor Narula,Yosef Schwartz,Richard B Devereux et al. Nupoor Narula et al.

Background: Mitral valve prolapse (MVP) is highly prevalent in Marfan syndrome (MFS), but its associations with significant valvular regurgitation, the need for mitral valve (MV) surgery or elective aortic root replacemen...