Journal: Human Molecular Genetics

Article Title: YWHAZ variation causes intellectual disability and global developmental delay with brain malformation

doi: 10.1093/hmg/ddac210

Figure Lengend Snippet: Genetic data of cases with YWHAZ variants. ( A ) Pedigrees of the family with YWHAZ variants and their corresponding phenotypes. ( B ) DNA sequencing chromatogram of the YWHAZ c.147A > T variants. ( C ) Amino acid sequence alignment of YWHAZ p.Lys49Asn variants showed that the Lys49 is highly conserved across species.

Article Snippet: The establishment of the c.147A > T point mutation knockin model of Ywhaz in Drosophila was conducted by Qidong Fungene Biotechnology Co., Ltd ( http://www.fungene.tech , China).

Techniques: DNA Sequencing, Sequencing

Journal: Human Molecular Genetics

Article Title: YWHAZ variation causes intellectual disability and global developmental delay with brain malformation

doi: 10.1093/hmg/ddac210

Figure Lengend Snippet: Genetic characteristics of the YHWAZ variation

Article Snippet: The establishment of the c.147A > T point mutation knockin model of Ywhaz in Drosophila was conducted by Qidong Fungene Biotechnology Co., Ltd ( http://www.fungene.tech , China).

Techniques: Mutagenesis

Journal: Human Molecular Genetics

Article Title: YWHAZ variation causes intellectual disability and global developmental delay with brain malformation

doi: 10.1093/hmg/ddac210

Figure Lengend Snippet: Behavior performance of YWHAZ knockin flies. ( A ) DNA sequencing of the knockin fly and wild-type fly. ( B ) Short-term memory performance of YWHAZ knockin flies. ( C ) Electrical shock test of knockin and wild-type flies. ( D ) Odor avoidance test of knockin and wild-type flies. ( E ) Bang-sensitive test of knockin and wild-type flies.

Article Snippet: The establishment of the c.147A > T point mutation knockin model of Ywhaz in Drosophila was conducted by Qidong Fungene Biotechnology Co., Ltd ( http://www.fungene.tech , China).

Techniques: Knock-In, DNA Sequencing

Journal: Human Molecular Genetics

Article Title: YWHAZ variation causes intellectual disability and global developmental delay with brain malformation

doi: 10.1093/hmg/ddac210

Figure Lengend Snippet: Brain morphology of YWHAZ knockin flies. ( A ) Wild-type and ( B ) YWHAZ knockin fly brain structure: dotted line indicated the gamma lobes of the mushroom body. ( C , D ) Alpha/beta lobes and alpha′/beta′ lobes of wild-type (C) and knockin flies (D). Scale bar: 100 μm. (E) Average area of gamma lobes in wild-type and Ywhaz knockin flies.

Article Snippet: The establishment of the c.147A > T point mutation knockin model of Ywhaz in Drosophila was conducted by Qidong Fungene Biotechnology Co., Ltd ( http://www.fungene.tech , China).

Techniques: Knock-In

Journal: Human Molecular Genetics

Article Title: YWHAZ variation causes intellectual disability and global developmental delay with brain malformation

doi: 10.1093/hmg/ddac210

Figure Lengend Snippet: Behavior features of YWHAZ knockdown flies. ( A ) Short-term memory performance in YWHAZ knockdown flies. ( B ) Relative expression of mRNA in YWHAZ knockdown flies and wild-type flies. ( C ) Both YWHAZ knockdown flies and wild-type flies showed no classical seizure behavior in the Bang-sensitive test. ( D , E ) Hyperactivity-like behavior in Bang-sensitive test: repeat non-flying wing vibration (C) and repeat drop and jump (D). Black arrows indicated the wing vibration. Dotted lines showed the drop and jump trajectory. ( F ) About 70% of YWHAZ knockdown Flies showed hyperactivity-like behavior in the Bang-sensitive test. ( G ) Ywhaz knockdown flies and Ywhaz knockdown plus knockin flies show no significant difference in cognitive performance.

Article Snippet: The establishment of the c.147A > T point mutation knockin model of Ywhaz in Drosophila was conducted by Qidong Fungene Biotechnology Co., Ltd ( http://www.fungene.tech , China).

Techniques: Knockdown, Expressing, Knock-In

Journal: The Journal of Clinical Investigation

Article Title: Collagen type VI regulates TGF- β bioavailability in skeletal muscle in mice

doi: 10.1172/JCI173354

Figure Lengend Snippet: ( A ) Double-homozygous Ltbp4 hom / Col6a2 –/– mice have weight similar to that of Col6a2 –/– mice and are smaller and lighter than WT and Ltbp4 het and Ltbp4 hom littermates. ( B ) H&E staining of tibialis anterior muscle of double-homozygous Ltbp4 hom /Col6a2 –/– mice shows dystrophic features similar to those in Col6a2 –/– mice (25 weeks old). Scale bars: 50 μm. ( C ) Although Ltbp4 hom / Col6a2 –/– mice have slightly higher forelimb grip strength compared with Col6a2 –/– mice, it remains markedly lower than that of WT Ltbp4 het and Ltbp4 hom littermates. ( D ) Physiological parameters in isolated EDL muscle of 25-week-old Ltbp4 hom / Col6a2 –/– mice were unchanged in comparison with Col6a2 –/– mice. For C and D , statistical comparisons were performed by 2-way ANOVA and Tukey’s adjustment for multiple comparisons. **** P < 0.0001. ( E ) After repeated eccentric contractions, tetanic force declined precipitously in isolated double-homozygous Ltbp4 hom / Col6a2 –/– and Col6a2 –/– EDL muscles, more prominently in male animals compared with female animals. Statistical analysis was performed using linear mixed models and Bonferroni adjustment for multiple comparisons. Error bars represent SEM.

Article Snippet: The Ltbp4 c/s knockin mice were generated by InGenious Targeting Laboratory as previously described ( ) with an Ltbp4 p.Cys1260Ser substitution and re-derived at the National Institute of Mental Health (NIMH) transgenic mouse core from mouse sperm straws provided by Daniel Rifkin’s laboratory at New York University.

Techniques: Staining, Isolation, Comparison, Muscles