Search Results - "Krishnamoorthy, Navaneethakrishnan"

Identification of mutation resistance coldspots for targeting the SARS‐CoV2 main protease by Krishnamoorthy, Navaneethakrishnan, Fakhro, Khalid

“…Mutations in the novel coronavirus SARS‐CoV2 are the major concern as they might lead to drug/vaccine resistance. In the host cell, the virus largely depends…”
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The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy‐Progress and Novel Therapeutic Opportunities by Mohamed, Iman A., Krishnamoorthy, Navaneethakrishnan T., Nasrallah, Gheyath K., Da'as, Sahar I.

“…Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant genetic cardiovascular disorder marked by genetic and phenotypic heterogeneity. Mutations in…”
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss by Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,…”
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A Neutrophil-Driven Inflammatory Signature Characterizes the Blood Transcriptome Fingerprint of Psoriasis by Rawat, Arun, Rinchai, Darawan, Toufiq, Mohammed, Marr, Alexandra K, Kino, Tomoshige, Garand, Mathieu, Tatari-Calderone, Zohreh, Kabeer, Basirudeen Syed Ahamed, Krishnamoorthy, Navaneethakrishnan, Bedognetti, Davide, Karim, Mohammed Yousuf, Sastry, Konduru S, Chaussabel, Damien

“…Transcriptome profiling approaches have been widely used to investigate the mechanisms underlying psoriasis pathogenesis. Most researchers have measured…”
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Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients by Alkowari, Moza, Espino-Guarch, Meritxell, Daas, Sahar, Abdelrahman, Doua, Hasan, Waseem, Krishnamoorthy, Navaneethakrishnan, Sathappan, Abbirami, Sheehan, Patrick, Panhuys, Nicholas Van, The Qatar Genome Program Research Consortium, Estivill, Xavier

“…Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an…”
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Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank by Gandhi, Geethanjali Devadoss, Aamer, Waleed, Krishnamoorthy, Navaneethakrishnan, Syed, Najeeb, Aliyev, Elbay, Al-Maraghi, Aljazi, Kohailan, Muhammad, Alenbawi, Jamil, Elanbari, Mohammed, Mifsud, Borbala, Mokrab, Younes, Abi Khalil, Charbel, Fakhro, Khalid A

“…The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from…”
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In silico and in vivo models for Qatari‐specific classical homocystinuria as basis for development of novel therapies by Ismail, Hesham M., Krishnamoorthy, Navaneethakrishnan, Al‐Dewik, Nader, Zayed, Hatem, Mohamed, Nura A., Giacomo, Valeria Di, Gupta, Sapna, Häberle, Johannes, Thöny, Beat, Blom, Henk J., Kruger, Warren D., Ben‐Omran, Tawfeg, Nasrallah, Gheyath K.

“…Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β‐synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar…”
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P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank by Gandhi, Geethanjali Devadoss, Syed, Najeeb, Vempalli, Fazulur, Abdi, Mona, Aliyev, Elbay, Krishnamoorthy, Navaneethakrishnan, Saad, Chadi, Mbarek, Hamdi, Badii, Ramin, Program Research Consortium, Qatar Genome, Akil, Ammira, Ben-Omran, Tawfeg, Fakhro, Khalid

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Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus by Selvaraj, Senthil, Rodrigues, Dírcea, Krishnamoorthy, Navaneethakrishnan, Fakhro, Khalid A, Saraiva, Luís R, Lemos, Manuel C

“…Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large…”
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Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss by Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, Bassani, Sissy, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo

“…Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of…”
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Molecular modeling of disease causing mutations in domain C1 of cMyBP-C by Gajendrarao, Poornima, Krishnamoorthy, Navaneethakrishnan, Kassem, Heba Sh, Moharem-Elgamal, Sarah, Cecchi, Franco, Olivotto, Iacopo, Yacoub, Magdi H

“…Cardiac myosin binding protein-C (cMyBP-C) is a multi-domain (C0-C10) protein that regulates heart muscle contraction through interaction with myosin, actin…”
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Structural modeling of p.V31F variant in the aspartoacylase gene by Krishnamoorthy, Navaneethakrishnan, Zayed, Hatem

“…Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N -acetylaspartate into acetate and aspartate, deficiency in its…”
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Impact of disease-causing mutations on inter-domain interactions in cMyBP-C: a steered molecular dynamics study by Krishnamoorthy, Navaneethakrishnan, Gajendrarao, Poornima, Olivotto, Iacopo, Yacoub, Magdi

“…The molecular interactions of the sarcomeric proteins are essential in the regulation of various cardiac functions. Mutations in the gene MYBPC3 coding for…”
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A computational modeling approach for enhancing self-assembly and biofunctionalisation of collagen biomimetic peptides by Krishnamoorthy, Navaneethakrishnan, Yacoub, Magdi H, Yaliraki, Sophia N

“…Abstract Collagen fibers are essential components of tissues, which are highly conserved across the animal kingdom and could be extremely useful in tissue…”
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Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank by Devadoss Gandhi, Geethanjali, Aliyev, Elbay, Syed, Najeeb, Vempalli, Fazulur Rehaman, Saad, Chadi, Mbarek, Hamdi, Al-Saei, Omayma, Al-Maraghi, Aljazi, Abdi, Mona, Krishnamoorthy, Navaneethakrishnan, Badii, Ramin, Ismail, Said I., Al-Muftah, Wadha, Badji, Radja, Mbarek, Hamdi, Darwish, Dima, Fadl, Tasnim, Yasin, Heba, Ennaifar, Maryem, Abdellatif, Rania, Alkuwari, Fatima, Alvi, Muhammad, Al-Sarraj, Yasser, Saad, Chadi, Althani, Asmaa, Fethnou, Eleni, Qafoud, Fatima, Alkhayat, Eiman, Afifi, Nahla, Tomei, Sara, Liu, Wei, Lorenz, Stephan, Syed, Najeeb, Almabrazi, Hakeem, Vempalli, Fazulur Rehaman, Temanni, Ramzi, Saqri, Tariq Abu, Khatib, Mohammedhusen, Hamza, Mehshad, Zaid, Tariq Abu, El Khouly, Ahmed, Pathare, Tushar, Poolat, Shafeeq, Al-Ali, Rashid, Albagha, Omar, Al-Khodor, Souhaila, Alshafai, Mashael, Badii, Ramin, Chouchane, Lotfi, Estivill, Xavier, Fakhro, Khalid A., Mokrab, Younes, Puthen, Jithesh V., Suhre, Karsten, Tatari, Zohreh, Akil, Ammira A., Ben-Omran, Tawfeg, Fakhro, Khalid A.

“…To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births…”
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A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay by Al-Kurbi, Alya A., Da'as, Sahar Isa, Aamer, Waleed, Krishnamoorthy, Navaneethakrishnan, Poggiolini, Ilaria, Abdelrahman, Doua, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Glass, Graeme E., Fakhro, Khalid A.

“…Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes…”
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A Strategy to Enhance Secretion of Extracellular Matrix Components by Stem Cells: Relevance to Tissue Engineering by Krishnamoorthy, Navaneethakrishnan, Tseng, Yuan-Tsan, Gajendrarao, Poornima, Sarathchandra, Padmini, McCormack, Ann, Carubelli, Ivan, Sohier, Jerome, Latif, Najma, Chester, Adrian H, Yacoub, Magdi H

“…The ability of cells to secrete extracellular matrix proteins is an important property in the repair, replacement, and regeneration of living tissue. Cells…”
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Two patients with Canavan disease and structural modeling of a novel mutation by Zaki, Osama K, Krishnamoorthy, Navaneethakrishnan, El Abd, Heba S, Harche, Soumaya A, Mattar, Reem A, Al disi, Rana S, Nofal, Mariam Y., El Bekay, Rajaa, Ahmed, Khalid A, George Priya Doss, C, Zayed, Hatem

“…Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic…”
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Burden of Mendelian disorders in a large Middle Eastern biobank by Aamer, Waleed, Al-Maraghi, Aljazi, Syed, Najeeb, Gandhi, Geethanjali Devadoss, Aliyev, Elbay, Al-Kurbi, Alya A, Al-Saei, Omayma, Kohailan, Muhammad, Krishnamoorthy, Navaneethakrishnan, Palaniswamy, Sasirekha, Al-Malki, Khulod, Abbasi, Saleha, Agrebi, Nourhen, Abbaszadeh, Fatemeh, Akil, Ammira S Al-Shabeeb, Badii, Ramin, Ben-Omran, Tawfeg, Lo, Bernice, Mokrab, Younes, Fakhro, Khalid A

“…Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world…”
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An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy by Gajendrarao, Poornima, Krishnamoorthy, Navaneethakrishnan, Selvaraj, Senthil, Girolami, Francesca, Cecchi, Franco, Olivotto, Iacopo, Yacoub, Magdi

“…Mutations in the gene coding for cardiac myosin binding protein-C (cMyBP-C), a multi-domain (C0-C10) protein, are a major causative factor for inherited…”
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