Journal: Journal of Human Genetics

Article Title: Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

doi: 10.1038/s10038-019-0651-z

Figure Lengend Snippet: Compound heterozygous variants in MYH11 in a family with MMIHS. a Prenatal ultrasonography image at 13 weeks of gestation for the index fetus demonstrated a distended bladder (2.56 cm × 2.32 cm). b Prenatal ultrasonography image at 17 weeks shows a progressive distention of the bladder (9.5 cm × 7.16 cm) in the index fetus. c Sanger sequencing validates the exome sequencing variant of c.2051 G > A (p.R684H) in MYH11 (NM_001040114). d Sanger sequencing validates the exome sequencing variant of c.3540_3541delinsTT (p.(E1180D, Q1181Ter)) in MYH11 (NM_001040114). e Protein expression of MYH11 in the control (Ctrl) and proband umbilical cord tissues. Arrows point to the band location for protein MYH11

Article Snippet: Anti-MYH11 antibody (1:50, Monoclonal rabbit IgG, BM5659, Boster Biological Technology, China) was used as a primary antibody.

Techniques: Sequencing, Variant Assay, Expressing, Control

Journal: Journal of Human Genetics

Article Title: Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

doi: 10.1038/s10038-019-0651-z

Figure Lengend Snippet: Summary of clinical and molecular findings of four genes involved in autosomal recessive MMIHS

Article Snippet: Anti-MYH11 antibody (1:50, Monoclonal rabbit IgG, BM5659, Boster Biological Technology, China) was used as a primary antibody.

Techniques: Sequencing