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  1. Article

    Open Access

    Epigenetic-focused CRISPR/Cas9 screen identifies (absent, small, or homeotic)2-like protein (ASH2L) as a regulator of glioblastoma cell survival

    Glioblastoma is the most common and aggressive primary brain tumor with extremely poor prognosis, highlighting an urgent need for develo** novel treatment options. Identifying epigenetic vulnerabilities of c...

    Ezgi Ozyerli-Goknar, Ezgi Yagmur Kala, Ali Cenk Aksu in Cell Communication and Signaling (2023)

  2. No Access

    Article

    TAS2R38 bitter taste perception in the Koṅkaṇī Sārasvata Brahmin population

    The TAS2R38 gene carries markers for phenylthiocarbamide (PTC) sensitivity. Various studies have investigated the genotype–phenotype association pattern for bitter tasting ability and other factors in different p...

    Jaison Jeevan Sequeira, Sheikh Nizamuddin, George van Driem in Genes & Genomics (2023)

  3. Article

    Open Access

    Multi-omics analyses of MEN1 missense mutations identify disruption of menin–MLL and menin–JunD interactions as critical requirements for molecular pathogenicity

    Loss-of-function mutations of the multiple endocrine neoplasia type 1 (MEN1) gene are causal to the MEN1 tumor syndrome, but they are also commonly found in sporadic pancreatic neuroendocrine tumors and other typ...

    Koen M. A. Dreijerink, Ezgi Ozyerli-Goknar, Stefanie Koidl in Epigenetics & Chromatin (2022)

  4. Article

    Open Access

    Dissecting the influence of Neolithic demic diffusion on Indian Y-chromosome pool through J2-M172 haplogroup

    The global distribution of J2-M172 sub-haplogroups has been associated with Neolithic demic diffusion. Two branches of J2-M172, J2a-M410 and J2b-M102 make a considerable part of Y chromosome gene pool of the I...

    Sakshi Singh, Ashish Singh, Raja Rajkumar, Katakam Sampath Kumar in Scientific Reports (2016)

  5. Article

    Open Access

    Genome-wide analysis correlates Ayurveda Prakriti

    The practice of Ayurveda, the traditional medicine of India, is based on the concept of three major constitutional types (Vata, Pitta and Kapha) defined as “Prakriti”. To the best of our knowledge, no study has c...

    Periyasamy Govindaraj, Sheikh Nizamuddin, Anugula Sharath in Scientific Reports (2015)

  6. Article

    Open Access

    c.620C>T mutation in GATA4 is associated with congenital heart disease in South India

    Congenital heart diseases (CHDs) usually refer to abnormalities in the structure and/or function of the heart that arise before birth. GATA4 plays an important role in embryonic heart development, hence the aim o...

    Saidulu Mattapally, Sheikh Nizamuddin, Kona Samba Murthy in BMC Medical Genetics (2015)