Search Results - "Giese, Arnaud P J"

Genetic association analysis of 77,539 genomes reveals rare disease etiologies by Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest

“…The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an…”
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CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function by Sethna, Saumil, Scott, Patrick A., Giese, Arnaud P. J., Duncan, Todd, Jian, Xiaoying, Riazuddin, Sheikh, Randazzo, Paul A., Redmond, T. Michael, Bernstein, Steven L., Riazuddin, Saima, Ahmed, Zubair M.

“…Age-related macular degeneration (AMD) is a multifactorial neurodegenerative disorder. Although molecular mechanisms remain elusive, deficits in autophagy have…”
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Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 by Riazuddin, Saima, Belyantseva, Inna A, Giese, Arnaud P J, Lee, Kwanghyuk, Indzhykulian, Artur A, Nandamuri, Sri Pratima, Yousaf, Rizwan, Sinha, Ghanshyam P, Lee, Sue, Terrell, David, Hegde, Rashmi S, Ali, Rana A, Anwar, Saima, Andrade-Elizondo, Paula B, Sirmaci, Asli, Parise, Leslie V, Basit, Sulman, Wali, Abdul, Ayub, Muhammad, Ansar, Muhammad, Ahmad, Wasim, Khan, Shaheen N, Akram, Javed, Tekin, Mustafa, Riazuddin, Sheikh, Cook, Tiffany, Buschbeck, Elke K, Frolenkov, Gregory I, Leal, Suzanne M, Friedman, Thomas B, Ahmed, Zubair M

“…Zubair Ahmed and colleagues identify homozygous mutations in CIB2 , a gene that encodes a calcium- and integrin-binding protein, that cause Usher syndrome type…”
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Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig by Giese, Arnaud P J, Guarnaschelli, Jess G, Ward, Jonette A, Choo, Daniel I, Riazuddin, Saima, Ahmed, Zubair M

“…Radiotherapy of individuals suffering with head & neck or brain tumors subserve the risk of sensorineural hearing loss. Here, we evaluated the protective…”
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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells by Giese, Arnaud P. J., Tang, Yi-Quan, Sinha, Ghanshyam P., Bowl, Michael R., Goldring, Adam C., Parker, Andrew, Freeman, Mary J., Brown, Steve D. M., Riazuddin, Saima, Fettiplace, Robert, Schafer, William R., Frolenkov, Gregory I., Ahmed, Zubair M.

“…Inner ear hair cells detect sound through deflection of stereocilia, the microvilli-like projections that are arranged in rows of graded heights. Calcium and…”
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Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology by Giese, Arnaud P J, Ali, Saadat, Isaiah, Amal, Aziz, Ishrat, Riazuddin, Saima, Ahmed, Zubair M

“…Otitis media (OM) is an infective and inflammatory disorder known to be a major cause of hearing impairment across all age groups. Both acute and chronic OM…”
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ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment by Bharadwaj, Thashi, Schrauwen, Isabelle, Rehman, Sakina, Liaqat, Khurram, Acharya, Anushree, Giese, Arnaud P J, Nouel-Saied, Liz M, Nasir, Abdul, Everard, Jenna L, Pollock, Lana M, Zhu, Shaoyuan, Bamshad, Michael J, Nickerson, Deborah A, Ali, Raja Hussain, Ullah, Asmat, Wali, Abdul, Ali, Ghazanfar, Santos-Cortez, Regie Lyn P, Ahmed, Zubair M, McDermott, Jr, Brian M, Ansar, Muhammad, Riazuddin, Saima, Ahmad, Wasim, Leal, Suzanne M

“…Hearing impairment (HI) is a common disorder of sensorineural function with a highly heterogeneous genetic background. Although substantial progress has been…”
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An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans by Jaworek, Thomas J, Richard, Elodie M, Ivanova, Anna A, Giese, Arnaud P J, Choo, Daniel I, Khan, Shaheen N, Riazuddin, Sheikh, Kahn, Richard A, Riazuddin, Saima

“…Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is…”
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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice by Schrauwen, Isabelle, Giese, Arnaud PJ, Aziz, Abdul, Lafont, David Tino, Chakchouk, Imen, Santos‐Cortez, Regie Lyn P, Lee, Kwanghyuk, Acharya, Anushree, Khan, Falak Sher, Ullah, Asmat, Nickerson, Deborah A, Bamshad, Michael J, Ali, Ghazanfar, Riazuddin, Saima, Ansar, Muhammad, Ahmad, Wasim, Ahmed, Zubair M, Leal, Suzanne M

“…ABSTRACT Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial…”
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Modifier variant of METTL13 suppresses human GAB1-associated profound deafness by Yousaf, Rizwan, Ahmed, Zubair M, Giese, Arnaud Pj, Morell, Robert J, Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R, Riazuddin, Sheikh, Friedman, Thomas B, Riazuddin, Saima

“…A modifier variant can abrogate the risk of a monogenic disorder. DFNM1 is a locus on chromosome 1 encoding a dominant suppressor of human DFNB26 recessive,…”
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Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants by Frank, Daniel N, Giese, Arnaud P J, Hafren, Lena, Bootpetch, Tori C, Yarza, Talitha Karisse L, Steritz, Matthew J, Pedro, Melquiadesa, Labra, Patrick John, Daly, Kathleen A, Tantoco, Ma Leah C, Szeremeta, Wasyl, Reyes-Quintos, Maria Rina T, Ahankoob, Niaz, Llanes, Erasmo Gonzalo D V, Pine, Harold S, Yousaf, Sairah, Ir, Diana, Einarsdottir, Elisabet, de la Cruz, Rhodieleen Anne R, Lee, Nanette R, Nonato, Rachelle Marie A, Robertson, Charles E, Ong, Kimberly Mae C, Magno, Jose Pedrito M, Chiong, Alessandra Nadine E, Espiritu-Chiong, Ma Carmina, San Agustin, Maria Luz, Cruz, Teresa Luisa G, Abes, Generoso T, Bamshad, Michael J, Cutiongco-de la Paz, Eva Maria, Kere, Juha, Nickerson, Deborah A, Mohlke, Karen L, Riazuddin, Saima, Chan, Abner, Mattila, Petri S, Leal, Suzanne M, Ryan, Allen F, Ahmed, Zubair M, Chonmaitree, Tasnee, Sale, Michele M, Chiong, Charlotte M, Santos-Cortez, Regie Lyn P

“…Otitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare…”
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Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome by Sethna, Saumil, Zein, Wadih M, Riaz, Sehar, Giese, Arnaud Pj, Schultz, Julie M, Duncan, Todd, Hufnagel, Robert B, Brewer, Carmen C, Griffith, Andrew J, Redmond, T Michael, Riazuddin, Saima, Friedman, Thomas B, Ahmed, Zubair M

“…Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder…”
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An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans: e1003774 by Jaworek, Thomas J, Richard, Elodie M, Ivanova, Anna A, Giese, Arnaud PJ, Choo, Daniel I, Khan, Shaheen N, Riazuddin, Sheikh, Kahn, Richard A, Riazuddin, Saima

“…Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is…”
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Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig: e0143606 by Giese, Arnaud PJ, Guarnaschelli, Jess G, Ward, Jonette A, Choo, Daniel I, Riazuddin, Saima, Ahmed, Zubair M

“…Radiotherapy of individuals suffering with head & neck or brain tumors subserve the risk of sensorineural hearing loss. Here, we evaluated the protective…”
Get full text