Journal: Sultan Qaboos University Medical Journal

Article Title: Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping

doi: 10.18295/2075-0528.2963

Figure Lengend Snippet: Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .

Article Snippet: Massive parallel sequencing was conducted on the DNBSEQ-G400 platform (MGI).

Techniques: Variant Assay, Sequencing, Functional Assay, Activation Assay

Journal: bioRxiv

Article Title: Cancer-associated synonymous mutations reveal stress signal-dependent mRNA folding that selectively modulates protein function

doi: 10.64898/2026.01.26.701754

Figure Lengend Snippet: A) Scheme showing the functional domains of p53, with the location of CASM34 mutants indicated in the zoomed-in panel. Transactivation (TAD) domain; proline-rich domain (PRD); DNA binding domain (DBD); oligomerization domain (OD); C-terminal domain (CTD). B and C) . Circular plots showing the base-pairing potentials of the p53 mRNA coding sequence (CDS) based on SHAPE reactivity with (B) p53-WT and (C) CASM34 (c.102 C>A) expressed in p53 null H1299 cells. Base-pairing across the nucleotides are indicated by lines and modifications in the lining pattern indicate RNA secondary structure alterations. RNA Regions which are significantly modified in secondary structure in CASM34 are indicated with dashed orange oval. D) and E) Secondary structures of indicated p53 mRNAs coding sequences using the SuperFold algorithm based on SHAPE values. SHAPE modified nucleotide sequences are indicated in orange and red. F) ΔSHAPE analysis demonstrates significant structural variations in the p53 mRNA CDS between p53-WT and CASM34 (c.102 C>A) mutant, with RNA regions constrained in CASM34 (c.102 C>A) are highlighted in green and the regions opened or exposed highlighted in violet. G) Same as (D) and (E) based on SHAPE values with CASM34 (c.102 C>G) mutant. SHAPE-Map data shown are representative of at least two independent repeats. RNA secondary structure models of p53-WT, showed in B) and D)are extracted from

Article Snippet: RNAs were then subjected to polyA purification, library preparation and massive parallel sequencing (Novogene, UK).

Techniques: Functional Assay, Binding Assay, Sequencing, Modification, Mutagenesis

Journal: bioRxiv

Article Title: Cancer-associated synonymous mutations reveal stress signal-dependent mRNA folding that selectively modulates protein function

doi: 10.64898/2026.01.26.701754

Figure Lengend Snippet: A) Volcano plot showing changes in expression levels of genome-wide transcripts in H1299 cells expressing p53-WT and CASM34 (c. 102 C>A) based on RNA-seq data of at least two independent replicates. B and C) Gene enrichment analysis of RNA-sequencing data categorizing the altered transcripts level following expression of p53-WT or CASM34 (c. 102 C>A) mRNAs.

Article Snippet: RNAs were then subjected to polyA purification, library preparation and massive parallel sequencing (Novogene, UK).

Techniques: Expressing, Genome Wide, RNA Sequencing

Journal: Frontiers in Genetics

Article Title: Case Report: Novel truncating PPM1D variant in a dichorionic diamniotic (DCDA) twin with Jansen-de Vries syndrome. an updated perspective

doi: 10.3389/fgene.2025.1601752

Figure Lengend Snippet: PPM1D variants associated with Jansen-de Vries syndrome reported in the literature, in this case (red square), and in the ClinVar database to date ( https://www.ncbi.nlm.nih.gov/clinvar/ ). [1] ; [2] ; [3] ; [4] ; [5] ; [6] ; [7] ; [8] ; [9] ; [10] ; [11] ; [12] ; [13] ClinVar . Reference sequence NM_003620.4 .

Article Snippet: Subsequent to this, we undertook massive parallel sequencing on a NextSeq550 instrument (Illumina).

Techniques: Sequencing