A. Stesmans, K. Clémer, V. V. Afanas’ev,
Point defects in fumed $\ensuremath{\sim}7\text{\ensuremath{-}}\mathrm{nm}$-sized fumed silica nanoparticles have been studied by $X$-, $K$-, and $Q$-band electron spin resonance (ESR) following $10\text{\ensuremath{-}}\mathrm{eV}$ irradiation. The ${E}^{\ensuremath{'}}$ defects are monitored as a function of post manufacture heat treatment with the sample brought into contact with ``bulk'' $\mathrm{Si}∕\mathrm{Si}{\mathrm{O}}_{2}$ entities at elevated temperatures in vacuum $({T}_{\mathrm{an}}=1005--1205\phantom{\ ...
Tópico(s): X-ray Spectroscopy and Fluorescence Analysis
2008 - American Physical Society | Physical Review B
H. K. Roscoe, M. Van Roozendael, C. Fayt, A. du Piesanie, Nader Abuhassan, C. Adams, M. Akrami, Alexander Cede, Jihyo Chong, K. Clémer, Udo Frieß, Manuel Gil Ojeda, F. Goutail, Rosemarie Graves, A. Griesfeller, Katja Großmann, G. Hemerijckx, F. Hendrick, J. R. Herman, Christian Hermans, Hitoshi Irie, P. V. Johnston, Yugo Kanaya, K. Kreher, R. Leigh, Alexis Merlaud, G. H. Mount, Mónica Navarro-Comas, H. Oetjen, Andréa Pazmiño, M. Perez-Camacho, Enno Peters, Gaïa Pinardi, Olga Puentedura, Andreas Richter, Anja Schönhardt, Reza Shaiganfar, E. Spinei, Kimberly Strong, Hisahiro Takashima, Tim Vlemmix, Mihalis Vrekoussis, Thomas Wagner, F. Wittrock, Margarita Yela, S. Yilmaz, K. F. Boersma, J. Hains, M. Kroon, Ankie Piters, Yoon Jun Kim,
Abstract. In June 2009, 22 spectrometers from 14 institutes measured tropospheric and stratospheric NO2 from the ground for more than 11 days during the Cabauw Intercomparison Campaign of Nitrogen Dioxide measuring Instruments (CINDI), at Cabauw, NL (51.97° N, 4.93° E). All visible instruments used a common wavelength range and set of cross sections for the spectral analysis. Most of the instruments were of the multi-axis design with analysis by differential spectroscopy software (MAX-DOAS), whose ...
Tópico(s): Atmospheric chemistry and aerosols
2010 - Copernicus Publications | Atmospheric measurement techniques
K. Clémer, Michel Van Roozendaël, C. Fayt, F. Hendrick, Christian Hermans, Gaïa Pinardi, Robert Spurr, Pucai Wang, Martine De Mazière,
Abstract. We report on the retrieval of aerosol extinction profiles at four wavelengths from ground-based multi-axis differential absorption spectroscopy (MAXDOAS) measurements performed in Beijing, China. Measurements were made over a 10-month time period (June 2008 to April 2009) using a newly developed MAXDOAS instrument. A retrieval algorithm, based on an on-line implementation of the radiative transfer code LIDORT and the optimal estimation technique, has been designed to provide near real time ...
Tópico(s): Atmospheric chemistry and aerosols
2010 - Copernicus Publications | Atmospheric measurement techniques
Paul Zieger, E. Weingartner, Bas Henzing, M. Moerman, Gerrit de Leeuw, Jyri Mikkilä, Mikael Ehn, Tuukka Petäjä, K. Clémer, Michel Van Roozendaël, S. Yilmaz, Udo Frieß, Hitoshi Irie, Thomas Wagner, Reza Shaiganfar, Steffen Beirle, Arnoud Apituley, Kyle Wilson, Urs Baltensperger,
Abstract. In the field, aerosol in-situ measurements are often performed under dry conditions (relative humidity RH<30–40%). Since ambient aerosol particles experience hygroscopic growth at enhanced RH, their microphysical and optical properties – especially the aerosol light scattering – are also strongly dependent on RH. The knowledge of this RH effect is of crucial importance for climate forcing calculations or for the comparison of remote sensing with in-situ measurements. Here, we will present ...
Tópico(s): Atmospheric Ozone and Climate
2011 - Copernicus Publications | Atmospheric chemistry and physics
Koen Beerten, Johanna Lomax, K. Clémer, A. Stesmans, Ulrich Radtke,
Ti-related paramagnetic centres in quartz are promising dosimeters to estimate burial ages of sedimentary deposits with electron spin resonance (ESR). In general, two different subspecies can be found, known as Ti–Li and Ti–H centres. Recent single- and multiple-grain ESR dating experiments have shown that apparent burial doses determined from these two centres seldom converge to a single value. In an attempt to further investigate this problem, optically stimulated luminescence (OSL) and ESR equivalent ...
Tópico(s): Archaeology and ancient environmental studies
2006 - Elsevier BV | Quaternary Geochronology
Ankie Piters, K. F. Boersma, M. Kroon, Jennifer Hains, Michel Van Roozendaël, F. Wittrock, Nader Abuhassan, C. Adams, M. Akrami, Marc Allaart, Arnoud Apituley, Steffen Beirle, J. B. Bergwerff, A. J. C. Berkhout, Dominik Brunner, Alexander Cede, Jihyo Chong, K. Clémer, C. Fayt, Udo Frieß, L. F. L. Gast, Manuel Gil-Ojeda, F. Goutail, Rosemarie Graves, A. Griesfeller, Katja Großmann, G. Hemerijckx, F. Hendrick, Bas Henzing, J. R. Herman, Christian Hermans, M. Hoexum, G. R. van der Hoff, Hitoshi Irie, P. V. Johnston, Yugo Kanaya, Y. J. Kim, H. Klein Baltink, K. Kreher, Gerrit de Leeuw, R. Leigh, Alexis Merlaud, M. Moerman, P. S. Monks, G. H. Mount, Mónica Navarro-Comas, H. Oetjen, Andréa Pazmiño, M. Perez-Camacho, Enno Peters, A. du Piesanie, Gaïa Pinardi, Olga Puentedura, Andreas Richter, H. K. Roscoe, Anja Schönhardt, Beat Schwarzenbach, Reza Shaiganfar, W. Sluis, E. Spinei, A. Stolk, Kimberly Strong, D. P. J. Swart, Hisahiro Takashima, Tim Vlemmix, Mihalis Vrekoussis, Thomas Wagner, Christopher Whyte, Kyle Wilson, Margarita Yela, S. Yilmaz, Paul Zieger, Y. Zhou,
Abstract. From June to July 2009 more than thirty different in-situ and remote sensing instruments from all over the world participated in the Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI). The campaign took place at KNMI's Cabauw Experimental Site for Atmospheric Research (CESAR) in the Netherlands. Its main objectives were to determine the accuracy of state-of-the-art ground-based measurement techniques for the detection of atmospheric nitrogen dioxide (both in- ...
Tópico(s): Atmospheric and Environmental Gas Dynamics
2012 - Copernicus Publications | Atmospheric measurement techniques
A. Stesmans, K. Clémer, V. V. Afanas’ev,
Point defects in fumed $\ensuremath{\sim}7\text{\ensuremath{-}}\mathrm{nm}$-sized silica nanoparticles have been studied by $K$- and $Q$-band electron spin resonance (ESR) following $10\text{\ensuremath{-}}\mathrm{eV}$ irradiation used to photodissociate H from passivated defects. Various types of ESR-active point defects are revealed, including the familiar ${E}^{\ensuremath{'}}$ center (generic entity $\mathbf{∙}\mathrm{Si}{\mathrm{O}}_{3}$), EX, the peroxy radical (POR), the methyl radical, and an unknown ...
Tópico(s): Photochemistry and Electron Transfer Studies
2005 - American Physical Society | Physical Review B
F. Hendrick, Jean‐François Müller, K. Clémer, Pucai Wang, Martine De Mazière, C. Fayt, C. Gielen, Christian Hermans, Jianzhong Ma, Gaïa Pinardi, T. Stavrakou, Tim Vlemmix, Michel Van Roozendaël,
Abstract. Ground-based Multi-Axis Differential Optical Absorption Spectroscopy (MAX-DOAS) measurements of nitrous acid (HONO) and its precursor NO2 (nitrogen dioxide) as well as aerosols have been performed daily in Beijing city centre (39.98° N, 116.38° E) from July 2008 to April 2009 and at the suburban site of Xianghe (39.75° N, 116.96° E) located ~60 km east of Beijing from March 2010 to December 2012. This extensive dataset allowed for the first time the investigation of the seasonal cycle of HONO ...
Tópico(s): Atmospheric and Environmental Gas Dynamics
2014 - Copernicus Publications | Atmospheric chemistry and physics
Vladimir Camarena, Lei Cao, Clemer Abad, Alexander J. Abrams, Yaima Toledo, Kimi Araki, Masatake Araki, Katherina Walz, Juan I. Young,
Abstract 2q23.1 microdeletion syndrome is characterized by intellectual disability, motor delay, autistic‐like behaviors, and a distinctive craniofacial phenotype. All patients carry a partial or total deletion of methyl‐CpG‐binding domain protein 5 ( MBD 5 ), suggesting that haploinsufficiency of this gene is responsible for the phenotype. To confirm this hypothesis and to examine the role of MBD 5 in vivo, we have generated and characterized an Mbd5 gene‐trap mouse model. Our study indicates that the ...
Tópico(s): Congenital heart defects research
2014 - Springer Nature | EMBO Molecular Medicine
Tao Wang, F. Hendrick, Pucai Wang, Guiqian Tang, K. Clémer, Huan Yu, C. Fayt, Christian Hermans, C. Gielen, Jean‐François Müller, Gaïa Pinardi, Nicolas Theys, Hugues Brenot, Michel Van Roozendaël,
Abstract. Ground-based multi-axis differential optical absorption spectroscopy (MAX-DOAS) measurements of sulfur dioxide (SO2) have been performed at the Xianghe station (39.8° N, 117.0° E) located at ~ 50 km southeast of Beijing from March 2010 to February 2013. Tropospheric SO2 vertical profiles and corresponding vertical column densities (VCDs), retrieved by applying the optimal estimation method to the MAX-DOAS observations, have been used to study the seasonal and diurnal cycles of SO2, in combination ...
Tópico(s): Air Quality Monitoring and Forecasting
2014 - Copernicus Publications | Atmospheric chemistry and physics
Denis Gallagher, Anastassia Voronova, Mark Zander, Gonzalo I. Cancino, Alexa N. Bramall, Matthew P. Krause, Clemer Abad, Mustafa Tekin, Paul M. Neilsen, David F. Callen, Stephen W. Scherer, Gordon Keller, David R. Kaplan, Katherina Walz, Freda D. Miller,
Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. Here, we show that knockdown of Ankrd11 in developing murine or human cortical neural precursors caused decreased proliferation, reduced neurogenesis, and aberrant neuronal positioning. Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation in the Ankrd11 HDAC-binding domain. Consistent with a ...
Tópico(s): Chromatin Remodeling and Cancer
2014 - Elsevier BV | Developmental Cell
Jintai Lin, Randall V. Martin, K. F. Boersma, Maarten Sneep, P. Stammes, Robert Spurr, Pucai Wang, Michel Van Roozendaël, K. Clémer, Hitoshi Irie,
Abstract. Retrievals of tropospheric nitrogen dioxide (NO2) from the Ozone Monitoring Instrument (OMI) are subject to errors in the treatments of aerosols, surface reflectance anisotropy, and vertical profile of NO2. Here we quantify the influences over China via an improved retrieval process. We explicitly account for aerosol optical effects (simulated by nested GEOS-Chem at 0.667° long. × 0.5° lat. and constrained by aerosol measurements), surface reflectance anisotropy, and high-resolution vertical ...
Tópico(s): Atmospheric chemistry and aerosols
2014 - Copernicus Publications | Atmospheric chemistry and physics
Katherina Walz, Devon Cohen, Paul M. Neilsen, Joseph Foster, Francesco Brancati, Korcan Demir, Richard Fisher, Michelle Moffat, Nienke E. Verbeek, Kathrine Bjørgo, Adriana Lo Castro, Paolo Curatolo, Giuseppe Novelli, Clemer Abad, Lei Cao, Lily Zhang, Oscar Diaz‐Horta, Juan I. Young, David F. Callen, Mustafa Tekin,
Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle, and ...
Tópico(s): Ubiquitin and proteasome pathways
2014 - Springer Science+Business Media | Human Genetics
Oscar Diaz‐Horta, Asli Subasioglu-Uzak, M’hamed Grati, Alexandra A. DeSmidt, Joseph Foster, Lei Cao, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, Clemer Abad, Rahul Mittal, Susan H. Blanton, Xue Z. Liu, Amjad Farooq, Katherina Walz, Zhongmin Lu, Mustafa Tekin,
Significance Concerted action of thousands of proteins is required for the inner ear to convert acoustic waves into electrical signals for hearing. Many of these proteins are currently unknown. This study uses a genetic approach to identify FAM65B as a gene mutated in a family with sensorineural hearing loss. Characterization of FAM65B shows that it is a component of the plasma membrane of the stereocilia hair bundle, the essential organelle in which electrical signals originate in the inner ear. ...
Tópico(s): Marine animal studies overview
2014 - National Academy of Sciences | Proceedings of the National Academy of Sciences
A. Tkachenko, P. Degroote, C. Aerts, K. Pavlovski, J. Southworth, P. I. Pápics, E. Moravveji, V. Kolbas, V. V. Tsymbal, J. Debosscher, K. Clémer,
We present a detailed analysis and interpretation of the high-mass binary V380 Cyg, based on high-precision space photometry gathered with the Kepler space mission as well as high-resolution ground-based spectroscopy obtained with the HERMES spectrograph attached to the 1.2m Mercator telescope. We derive a precise orbital solution and the full physical properties of the system, including dynamical component mass estimates of 11.43+/-0.19 and 7.00+/-0.14 solar masses for the primary and secondary, ...
Tópico(s): Astrophysics and Star Formation Studies
2014 - Oxford University Press | Monthly Notices of the Royal Astronomical Society
Gaïa Pinardi, Michel Van Roozendaël, Nader Abuhassan, C. Adams, Alexander Cede, K. Clémer, C. Fayt, Udo Frieß, M. Gil, J. R. Herman, Christian Hermans, F. Hendrick, Hitoshi Irie, Alexis Merlaud, Mónica Navarro-Comas, Enno Peters, Ankie Piters, Olga Puentedura, Andreas Richter, Anja Schönhardt, Reza Shaiganfar, E. Spinei, Kimberly Strong, Hisahiro Takashima, Mihalis Vrekoussis, Thomas Wagner, F. Wittrock, S. Yilmaz,
Abstract. We present intercomparison results for formaldehyde (HCHO) slant column measurements performed during the Cabauw Intercomparison campaign of Nitrogen Dioxide measuring Instruments (CINDI) that took place in Cabauw, the Netherlands, in summer 2009. During two months, nine atmospheric research groups simultaneously operated MAX-DOAS (MultiAXis Differential Optical Absorption Spectroscopy) instruments of various designs to record UV-visible spectra of scattered sunlight at different elevation ...
Tópico(s): Atmospheric chemistry and aerosols
2013 - Copernicus Publications | Atmospheric measurement techniques
Udo Frieß, H. Klein Baltink, Steffen Beirle, K. Clémer, F. Hendrick, Bas Henzing, Hitoshi Irie, Gerrit de Leeuw, An Li, M. Moerman, Michel Van Roozendaël, Reza Shaiganfar, Thomas Wagner, Yang Wang, Pinhua Xie, S. Yilmaz, Paul Zieger,
Abstract. A first direct intercomparison of aerosol vertical profiles from Multi-Axis Differential Optical Absorption Spectroscopy (MAX-DOAS) observations, performed during the Cabauw Intercomparison Campaign of Nitrogen Dioxide measuring Instruments (CINDI) in summer 2009, is presented. Five out of 14 participants of the CINDI campaign reported aerosol extinction profiles and aerosol optical thickness (AOT) as deduced from observations of differential slant column densities of the oxygen collision ...
Tópico(s): Atmospheric chemistry and aerosols
2016 - Copernicus Publications | Atmospheric measurement techniques
Oscar Diaz‐Horta, Clemer Abad, Levent Sennaroğlu, Joseph Foster, Alexandra A. DeSmidt, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, M’hamed Grati, Suat Fítöz, Xue Z. Liu, Amjad Farooq, Faiqa Imtiaz, Benjamin Currall, Cynthia C. Morton, Michiru Nishita, Yasuhiro Minami, Zhongmin Lu, Katherina Walz, Mustafa Tekin,
Significance The inner ear is a vertebrate organ of delicate and complex architecture that translates sound into electrical signals deciphered by the brain. This study utilizes a genetic approach to associate a mutation of ROR1 (receptor tyrosine kinase-like orphan receptor 1) with inner ear anomalies and deafness in humans. Characterization of Ror1 mutant mice reveals fasciculation deficiencies of spiral ganglion axons and disruption of sensory hair cell synapses and peripheral innervations. The ...
Tópico(s): Noise Effects and Management
2016 - National Academy of Sciences | Proceedings of the National Academy of Sciences
Clemer Abad, Melissa M. Cook, Lei Cao, Julie R. Jones, Nalini R. Rao, Lynn Dukes‐Rimsky, Rini Pauly, Cindy Skinner, Yunsheng Wang, Feng Luo, R.E. Stevenson, Katherina Walz, Anand Srivastava,
Deletions and mutations involving the Retinoic Acid Induced 1 (RAI1) gene at 17p11.2 cause Smith-Magenis syndrome (SMS). Here we report a patient with autism as the main clinical presentation, with some SMS-like features and a rare de novo RAI1 gene mutation, c.3440G > A (p.R1147Q). We functionally characterized the RAI1 p.R1147Q mutant protein. The mutation, located near the nuclear localization signal, had no effect on the subcellular localization of the mutant protein. However, similar to previously ...
Tópico(s): RNA Research and Splicing
2018 - Multidisciplinary Digital Publishing Institute | Biology
Güney Bademci, Clemer Abad, Armağan İncesulu, Fahed Elian, Azadeh Reyahi, Oscar Diaz‐Horta, Filiz Başak Cengiz, Claire J. Sineni, Serhat Seyhan, Emine İkbal Atlı, Hikmet Başmak, Selma Demır, Ali Moussavi Nik, Tim Footz, Shengru Guo, Duygu Duman, Suat Fítöz, Hakan Gürkan, Susan H. Blanton, Michael A. Walter, Peter Carlsson, Katherina Walz, Mustafa Tekin,
Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox ...
Tópico(s): Congenital heart defects research
2018 - Oxford University Press | Human Molecular Genetics
Güney Bademci, Clemer Abad, Armağan İncesulu, Abolfazl Rad, Özgül M. Alper, Susanne M. Kolb, Filiz Başak Cengiz, Oscar Diaz‐Horta, Fatma Sılan, Ercan Mıhçı, Emre Ocak, Maryam Najafi, Reza Maroofian, Elanur Yılmaz, Banu Nur, Duygu Duman, Shengru Guo, David Sant, Gaofeng Wang, Paula V. Monje, Thomas Haaf, Susan H. Blanton, Barbara Vona, Katherina Walz, Mustafa Tekin,
While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating ...
Tópico(s): Connexins and lens biology
2018 - Springer Science+Business Media | Human Genetics
David Polak, Navit Clemer‐Shamai, Lior Shapira,
Abstract Background The aim of the present in vitro study was to explore the possibility of using platelet‐rich fibrin ( PRF ) as a local sustained released device for antibiotics. Materials and methods Platelet‐rich fibrin was prepared with the addition of antibiotics (5 mg/ml metronidazole; 150 mg/ml clindamycin; 1 mU/ml penicillin) or saline prior to centrifugation, while collagen sponges served as control. PRF s anti‐bacterial properties were examined in an anti‐biogram assay with Staphylococcus ...
Tópico(s): Hemostasis and retained surgical items
2019 - Wiley | Journal Of Clinical Periodontology
Chong Li, Güney Bademci, Aslı Subaşıoğlu, Oscar Diaz‐Horta, Yi Zhu, Jiaqi Liu, Timothy Gavin Mitchell, Clemer Abad, Serhat Seyhan, Duygu Duman, Filiz Başak Cengiz, Suna Tokgöz-Yılmaz, Susan H. Blanton, Amjad Farooq, Katherina Walz, R. Grace Zhai, Mustafa Tekin,
We have identified a
Tópico(s): RNA regulation and disease
2019 - National Academy of Sciences | Proceedings of the National Academy of Sciences
Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J.C. Tai, Celine de Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patrı́cia Maciel, Michael E. Talkowski, James F. Gusella,
Abstract Background MBD5 , encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies have directly implicated MBD5 in the etiology of autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs). However, little is known concerning the specific function(s) of MBD5. Methods To gain insight into the complex interactions associated ...
Tópico(s): Congenital heart defects research
2020 - BioMed Central | Molecular Autism
Güney Bademci, Clemer Abad, Filiz Başak Cengiz, Serhat Seyhan, Armağan İncesulu, Shengru Guo, Suat Fítöz, Emine İkbal Atlı, Nicholas C. Gosstola, Selma Demır, Brett M. Colbert, Gozde Cosar Seyhan, Claire J. Sineni, Duygu Duman, Hakan Gürkan, Cynthia C. Morton, Derek M. Dykxhoorn, Katherina Walz, Mustafa Tekin,
Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. Genomic location of the overlapping deleted region started from approximately 350 kb downstream of GDF6, which codes for growth and differentiation factor ...
Tópico(s): Animal Vocal Communication and Behavior
2020 - American Society for Clinical Investigation | Journal of Clinical Investigation
R.H. Magruder, A. Stesmans, K. Clémer, R. A. Weeks, Robert A. Weller,
To determine if the only source of optical absorption between 5.8 and 5.9eV is the E′ center (absorbing at 5.85eV) two separate suites of type III silica samples were implanted, one with Si and one with O. Several ion energies were used for implantation to produce layers 600 and 570nm thick in the Si case and in the O case, respectively. Concentrations of implanted ions in the layers ranged from >0.02to<2.1at.%, with uncertainties in the concentrations less than ±5%. Optical absorption measurements ...
Tópico(s): Semiconductor materials and devices
2006 - American Institute of Physics | Journal of Applied Physics
A. Tkachenko, C. Aerts, K. Pavlovski, P. Degroote, P. I. Pápics, E. Moravveji, H. Lehmann, V. Kolbas, K. Clémer,
High-mass binary stars are known to show an unexplained discrepancy between the dynamical masses of the individual components and those predicted by models. In this work, we study Sigma Scorpii, a double-lined spectroscopic binary system consisting of two B-type stars residing in an eccentric orbit. The more massive primary component is a Beta Cep-type pulsating variable star. Our analysis is based on a time-series of some 1000 high-resolution spectra collected with the CORALIE spectrograph in 2006, ...
Tópico(s): Astrophysics and Star Formation Studies
2014 - Oxford University Press | Monthly Notices of the Royal Astronomical Society
Joseph Foster, Seema Kapoor, Oscar Diaz‐Horta, Ankur Singh, Clemer Abad, Anju Rastogi, R. Moharana, Oya Tekeli, Katherina Walz, Mustafa Tekin,
Clinical GeneticsVolume 86, Issue 6 p. 589-591 LETTER TO THE EDITOR Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction J. Foster II, J. Foster II Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USAThese authors contributed equally to this work.Search for more papers by this authorS. Kapoor, S. Kapoor Genetics Division, Department of ...
Tópico(s): Salivary Gland Tumors Diagnosis and Treatment
2013 - Wiley | Clinical Genetics
Nalini R. Rao, Clemer Abad, Irene Cuadrado Pérez, Anand K. Srivastava, Juan I. Young, Katherina Walz,
Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, ...
Tópico(s): RNA regulation and disease
2017 - Multidisciplinary Digital Publishing Institute | Biology
Oscar Diaz‐Horta, Clemer Abad, Filiz Başak Cengiz, Güney Bademci, Patricia Blackwelder, Katherina Walz, Mustafa Tekin,
RIPOR2 (previously known as FAM65B) localizes to stereocilia of auditory hair cells and causes deafness when its function is disturbed by mutations. Here, we demonstrate that during the morphogenesis of the hair cell bundle, absence of Ripor2 affects the orientation of this key subcellular structure. We show that Ripor2 interacts with Myh9, a protein encoded by a known deafness gene. Absence of Ripor2 is associated with low Myh9 abundance in the mouse cochlea despite increased amount of Myh9 transcripts. ...
Tópico(s): RNA modifications and cancer
2018 - Springer Science+Business Media | Journal of Molecular Medicine