Search Results - "GIESE, J. P"

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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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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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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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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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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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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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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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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Structure in the differential charge-state fractions of He following ionization by fast protons by GIESE, J. P, HORSDAL, E

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Angular distribution of Auger electrons emitted through the resonant transfer and excitation process following O5+ + He collisions by BENHENNI, M, SHAFROTH, S. M, SWENSON, J. K, SCHULZ, M, GIESE, J. P, SCHÖNE, H, VANE, C. R, DITTNER, P. F, DATZ, S

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Resonant dielectronic and direct excitation in crystal channels by DATZ, S, VANE, C. R, ROSSEEL, T. M, DITTNER, P. F, GIESE, J. P, GOMEZ DEL CAMPO, J, JONES, N. L, KRAUSE, H. F, MILLER, P. D, SCHULZ, M, SCHONE, H

“…We have observed dielectronic and direct excitation of H-like S{sup 15+} and Ca{sup 19+} and He-like Ti{sup 20+} ions in silicon channels caused by collision…”
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Electron-electron interactions in transfer and excitation in F8+ → H2 collisions by SCHULZ, M, GIESE, J. P, SWENSON, J. K, DATZ, S, DITTNER, P. F, KRAUSE, H. F, SCHONE, H, VANE, C. R, BENHENNI, M, SHAFROTH, S. M

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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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Double excitation of He by fast ions by GIESE, J. P, SCHULZ, M, SWENSON, J. K, SCHOÊNE, H, BENHENNI, M, VARGHESE, S. L, VANE, C. R, DITTNER, P. F, SHAFROTH, S. M, DATZ, S

“…Autoionization of He atoms following double excitation by electrons, protons, C{sup {ital Q}+} ({ital Q}=4--6), and F{sup {ital Q}+} ({ital Q}=7--9) ions has…”
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Observation of direct ionization of He by highly charged ions at low velocity by Wu, W, Cocke, CL, Giese, JP, Melchert, F, Raphaelian, ML, Stöckli, M

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Experimental separation of electron-electron and electron-nuclear contributions to ionization of fast hydrogenlike ions colliding with He by Wu, W, Wong, KL, Ali, R, Chen, CY, Cocke, CL, Frohne, V, V, Giese, JP, Raphaelian, M, Walch, B, Dörner, R, Mergel, V, V, Schmidt-Böcking, H, Meyerhof, WE

“…Recoil momentum spectroscopy has been used to distinguish experimentally between contributions to the ionization of hydrogenlike O and F projectiles from…”
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Electron capture by fast protons in Ar : cross sections for capture from the M shell by PEDERSEN, E. H, GIESE, J. P

“…Charge-state distributions of slow recoil ions produced in the single-electron-capture reaction H{sup +}+Ar{r arrow}H+Ar{sup {ital q}+} have been measured in…”
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Charge-state dependence of binary-encounter-electron cross sections and peak energies by HIDMI, H. I, RICHARD, P, SANDERS, J. M, SCHÖNE, H, GIESE, J. P, LEE, D. H, ZOUROS, T. J. M, VARGHESE, S. L

“…The charge-state dependence of the binary-encounter-electron (BEE) double-differential cross section (DDCS) at 0[degree] with respect to the beam direction…”
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