Search Results - "Schmitz‐Abe, Klaus"

Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency by Kolukisa, Burcu, Baser, Dilek, Akcam, Bengu, Danielson, Jeffrey, Bilgic Eltan, Sevgi, Haliloglu, Yesim, Sefer, Asena Pinar, Babayeva, Royale, Akgun, Gamze, Charbonnier, Louis‐Marie, Schmitz‐Abe, Klaus, Kendir Demirkol, Yasemin, Zhang, Yu, Gonzaga‐Jauregui, Claudia, Jimenez Heredia, Raul, Kasap, Nurhan, Kiykim, Ayca, Ozek Yucel, Esra, Gok, Veysel, Unal, Ekrem, Pac Kisaarslan, Aysenur, Nepesov, Serdar, Baysoy, Gokhan, Onal, Zerrin, Yesil, Gozde, Celkan, Tulin Tiraje, Cokugras, Haluk, Camcioglu, Yildiz, Eken, Ahmet, Boztug, Kaan, Lo, Bernice, Karakoc‐Aydiner, Elif, Su, Helen C., Ozen, Ahmet, Chatila, Talal A., Baris, Safa

“…Background Biallelic loss‐of‐function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and…”
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Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex by Li, Qifei, Lin, Jasmine, Luo, Shiyu, Schmitz‐Abe, Klaus, Agrawal, Rohan, Meng, Melissa, Moghadaszadeh, Behzad, Beggs, Alan H., Liu, Xiaoli, Perrella, Mark A., Agrawal, Pankaj B.

“…Background Autosomal‐recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or…”
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Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6 by Renella, Raffaele, Gagne, Katelyn, Beauchamp, Ellen, Fogel, Jonathan, Perlov, Aleksej, Sola, Mireia, Schlaeger, Thorsten, Hofmann, Inga, Shimamura, Akiko, Ebert, Benjamin L., Schmitz‐Abe, Klaus, Markianos, Kyriacos, Murphy, Kristi, Sun, Liang, Rockowitz, Shira, Sliz, Piotr, Campagna, Dean R., Springer, Timothy A., Bahl, Christopher, Agarwal, Suneet, Fleming, Mark D., Williams, David A.

“…Septins play key roles in mammalian cell division and cytokinesis but have not previously been implicated in a germline human disorder. A male infant with…”
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De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy by Wojcik, Monica H., Okada, Kyoko, Prabhu, Sanjay P., Nowakowski, Dan W., Ramsey, Keri, Balak, Chris, Rangasamy, Sampath, Brownstein, Catherine A., Schmitz‐Abe, Klaus, Cohen, Julie S., Fatemi, Ali, Shi, Jiahai, Grant, Ellen P., Narayanan, Vinodh, Ho, Hsin‐Yi Henry, Agrawal, Pankaj B.

“…KIF26B is a member of the kinesin superfamily with evolutionarily conserved functions in controlling aspects of embryogenesis, including the development of the…”
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X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations by Campagna, Dean R., Bie, Charlotte I., Schmitz‐Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.

“…X‐linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial…”
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Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 by Baris, Safa, Benamar, Mehdi, Chen, Qian, Catak, Mehmet Cihangir, Martínez-Blanco, Mónica, Wang, Muyun, Fong, Jason, Massaad, Michel J., Sefer, Asena Pinar, Kara, Altan, Babayeva, Royala, Eltan, Sevgi Bilgic, Yucelten, Ayse Deniz, Bozkurtlar, Emine, Cinel, Leyla, Karakoc-Aydiner, Elif, Zheng, Yumei, Wu, Hao, Ozen, Ahmet, Schmitz-Abe, Klaus, Chatila, Talal A.

“…[Display omitted] Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of…”
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High number of candidate gene variants are identified as disease‐causing in a period of 4 years by Hills, Sonia, Li, Qifei, Madden, Jill A., Genetti, Casie A., Brownstein, Catherine A., Schmitz‐Abe, Klaus, Beggs, Alan H., Agrawal, Pankaj B.

“…Advances in bioinformatic tools paired with the ongoing accumulation of genetic knowledge and periodic reanalysis of genomic sequencing data have led to an…”
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy by Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

“…OBJECTIVE:To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in…”
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes by Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M, Nori, Neeharika, Madden, Jill A, Genetti, Casie A, Wojcik, Monica H, Ponnaluri, Sadhana, Gubbels, Cynthia S, Picker, Jonathan D, O'Donnell-Luria, Anne H, Yu, Timothy W, Bodamer, Olaf, Brownstein, Catherine A, Beggs, Alan H, Agrawal, Pankaj B

“…Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic…”
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Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization in vitro by Sanchez-Schmitz, Guzman, Stevens, Chad R, Bettencourt, Ian A, Flynn, Peter J, Schmitz-Abe, Klaus, Metser, Gil, Hamm, David, Jensen, Kristoffer J, Benn, Christine, Levy, Ofer

“…Current vaccine development disregards human immune ontogeny, relying on animal models to select vaccine candidates targeting human infants, who are at…”
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A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia by Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.

“…The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited blood disorders characterized by pathological mitochondrial iron deposition…”
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Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation by O'Connell, Amy E, Gerashchenko, Maxim V, O'Donohue, Marie-Francoise, Rosen, Samantha M, Huntzinger, Eric, Gleeson, Diane, Galli, Antonella, Ryder, Edward, Cao, Siqi, Murphy, Quinn, Kazerounian, Shideh, Morton, Sarah U, Schmitz-Abe, Klaus, Gladyshev, Vadim N, Gleizes, Pierre-Emmanuel, Séraphin, Bertrand, Agrawal, Pankaj B

“…Hbs1 has been established as a central component of the cell's translational quality control pathways in both yeast and prokaryotic models; however, the…”
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A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings by Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S K, Vargas, Sara O, Luo, Shiyu, Rosen, Samantha M, Madden, Jill A, Genetti, Casie A, Brabek, Jan, Brownstein, Catherine A, Kazerounian, Shideh, Raby, Benjamin A, Schmitz-Abe, Klaus, Kennedy, John C, Fishman, Martha P, Mullen, Mary P, Taylor, Joan M, Rosel, Daniel, Agrawal, Pankaj B

“…ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family…”
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Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency by Kahn, Adrian, Luque, Gabriela, Cuestas, Eduardo, Basquiera, Ana, Ricchi, Brenda, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Benamar, Mehdi, Motrich, Ruben Dario, Chatila, Talal A., Rivero, Virginia E.

“…Common variable immunodeficiency (CVID) is the most common symptomatic syndrome among inborn errors of immunity. Although several aspects of CVID…”
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Ringed sideroblasts in β‐thalassemia by Cattivelli, Kim, Campagna, Dean R., Schmitz‐Abe, Klaus, Heeney, Matthew M., Yaish, Hassan M., Caruso Brown, Amy E., Kearney, Susan, Walkovich, Kelly, Markianos, Kyriacos, Fleming, Mark D., Neufeld, Ellis J.

“…Symptomatic β‐thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Although common hematological…”
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Pricing exotic options using MSL-MC by Abe, Klaus Schmitz

“…Today, better numerical approximations are required for multi-dimensional SDEs to improve on the poor performance of the standard Monte Carlo pricing method…”
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An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations by Flanagan, Frances O., Holtz, Alexander M., Vargas, Sara O., Genetti, Casie A., Schmitz-Abe, Klaus, Casey, Alicia, Kennedy, John C., Raby, Benjamin A., Mullen, Mary P., Fishman, Martha P., Agrawal, Pankaj B.

“…A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms improved initially, but he exhibited a…”
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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders by Parikh, Jignesh R., Genetti, Casie A., Aykanat, Asli, Brownstein, Catherine A., Schmitz-Abe, Klaus, Danowski, Morgan, Quitadomo, Andrew, Madden, Jill A., Yacoubian, Calum, Gain, Richard, Williams, Tessa, Meskell, Mary, Brown, Andrew, Frith, Alison, Rockowitz, Shira, Sliz, Piotr, Agrawal, Pankaj B., Defay, Thomas, McDonagh, Paul, Reynders, John, Lefebvre, Sebastien, Beggs, Alan H.

“…Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data…”
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A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2 by Bartnikas, Thomas Benedict, Wildt, Sheryl, Wineinger, Amy, Schmitz-Abe, Klaus, Markianos, Kyriacos, Cooper, Dale, Fleming, Mark D.

“…Abstract 612 Sporadic iron overload has been reported previously in rats but the underlying cause has not been ascertained. In this study, phenotypic analysis…”
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A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma by Harb, Hani, Stephen-Victor, Emmanuel, Crestani, Elena, Benamar, Mehdi, Massoud, Amir, Cui, Ye, Charbonnier, Louis-Marie, Arbag, Sena, Baris, Safa, Cunnigham, Amparito, Leyva-Castillo, Juan Manuel, Geha, Raif S., Mousavi, Amirhosein J., Guennewig, Boris, Schmitz-Abe, Klaus, Sioutas, Constantinos, Phipatanakul, Wanda, Chatila, Talal A.

“…Elucidating the mechanisms that sustain asthmatic inflammation is critical for precision therapies. We found that interleukin-6- and STAT3 transcription…”
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