Search Results - "Holtz, Alexander"

Dosage-Dependent Regulation of Pancreatic Cancer Growth and Angiogenesis by Hedgehog Signaling by Mathew, Esha, Zhang, Yaqing, Holtz, Alexander M., Kane, Kevin T., Song, Jane Y., Allen, Benjamin L., Pasca di Magliano, Marina

“…Pancreatic cancer, a hypovascular and highly desmoplastic cancer, is characterized by tumor expression of Hedgehog (HH) ligands that signal to fibroblasts in…”
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Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning by Holtz, Alexander M, Peterson, Kevin A, Nishi, Yuichi, Morin, Steves, Song, Jane Y, Charron, Frédéric, McMahon, Andrew P, Allen, Benjamin L

“…Hedgehog (HH) signaling is essential for vertebrate and invertebrate embryogenesis. In Drosophila, feedback upregulation of the HH receptor Patched (PTC; PTCH…”
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Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function by Holtz, Alexander M, Griffiths, Samuel C, Davis, Samantha J, Bishop, Benjamin, Siebold, Christian, Allen, Benjamin L

“…Vertebrate Hedgehog (HH) signaling is controlled by several ligand-binding antagonists including Patched-1 (PTCH1), PTCH2, and HH-interacting protein 1…”
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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features by Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian G, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander M, Innes, A Micheil, Keren, Boris, Macken, William L, Marcelis, Carlo, Otten, Catherine E, Paolucci, Sarah A, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert D S, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D, Elpeleg, Orly, Tora, László

“…Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal…”
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Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency by Cardenas, Vanessa, MD, DiPaola, Frank, MD, Adams, Stacie D., MD, Holtz, Alexander M., BA, Ahmad, Ayesha, MD

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Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders by Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Björn, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphné, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Désirée, Donge, Mylène, Deb, Wallid, De La Rosa Poueriet, Katlin A., Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, Jamra, Rami Abou

“…Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described…”
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Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling by Song, Jane Y., Holtz, Alexander M., Pinskey, Justine M., Allen, Benjamin L.

“…Proper levels of Hedgehog (HH) signaling are essential during embryonic development and adult tissue homeostasis. A central mechanism to control HH pathway…”
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The Transcription Factor GLI1 Modulates the Inflammatory Response during Pancreatic Tissue Remodeling by Mathew, Esha, Collins, Meredith A., Fernandez-Barrena, Maite G., Holtz, Alexander M., Yan, Wei, Hogan, James O., Tata, Zachary, Allen, Benjamin L., Fernandez-Zapico, Martin E., Pasca di Magliano, Marina

“…Pancreatic cancer, one of the deadliest human malignancies, is almost uniformly associated with a mutant, constitutively active form of the oncogene Kras…”
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M., VanCoillie, Rachel, Vansickle, Elizabeth A., Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J., Si, Yue, Wentzensen, Ingrid M., Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H., Aldinger, Kimberly A., Dobyns, William B., Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A., O’Heir, Emily, Moody, Shade, Kim, Katherine H., Burton, Barbara K., Yoon, Grace, Campo, Miguel del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L., Gordon, Patricia L., Prokop, Jeremy W., Karaa, Amel, Bupp, Caleb, Raby, Benjamin A.

“…Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle…”
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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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Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations by Holtz, Alexander M., Harrington, Amanda W., McNamara, Erin R., Kielian, Agnieszka, Soul, Janet S., Martinez-Ojeda, Mayra, Levy, Philip T.

“…Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and…”
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Perspectives of Rare Disease Experts on Newborn Genome Sequencing by Gold, Nina B, Adelson, Sophia M, Shah, Nidhi, Williams, Shardae, Bick, Sarah L, Zoltick, Emilie S, Gold, Jessica I, Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy E, Walker, Melissa, Holtz, Alexander M, Sankaran, Vijay G, Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid A, Thiagarajah, Jay R, Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert C

“…Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad…”
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USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms by Koch, Intisar, Slovik, Maya, Zhang, Yuling, Liu, Bingyu, Rennie, Martin, Konz, Emily, Cogne, Benjamin, Daana, Muhannad, Davids, Laura, Diets, Illja J, Gold, Nina B, Holtz, Alexander M, Isidor, Bertrand, Mor-Shaked, Hagar, Neira Fresneda, Juanita, Niederhoffer, Karen Y, Nizon, Mathilde, Pfundt, Rolph, Simon, Meh, Stegmann, Apa, Guillen Sacoto, Maria J, Wevers, Marijke, Barakat, Tahsin Stefan, Yanovsky-Dagan, Shira, Atanassov, Boyko S, Toth, Rachel, Gao, Chengjiang, Bustos, Francisco, Harel, Tamar

“…Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cognition and behavior…”
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Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand by Camp, Darius, Haitian He, Billy, Li, Sally, Althaus, Irene W, Holtz, Alexander M, Allen, Benjamin L, Charron, Frédéric, van Meyel, Donald J

“…Hedgehog (Hh) proteins are secreted molecules essential for tissue development in vertebrates and invertebrates. Hh reception via the 12-pass transmembrane…”
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P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions by Shah, Nidhi, Gold, Nina, Adelson, Sophia, Williams, Shardae, Bick, Sarah, Gold, Jessica, Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy, Walker, Melissa, Holtz, Alexander, Sankaran, Vijay, Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid, Thiagarajah, Jay, Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features: ATXN7L3 variants in developmental delay by Harel, Tamar, Spicher, Camille, Scheer, Elisabeth, Buchan, Jillian, Cech, Jennifer, Folland, Chiara, Frey, Tanja, Holtz, Alexander, Innes, a Micheil, Keren, Boris, Macken, William, Marcelis, Carlo, Otten, Catherine, Paolucci, Sarah, Petit, Florence, Pfundt, Rolph, Pitceathly, Robert, Rauch, Anita, Ravenscroft, Gianina, Sanchev, Rani, Steindl, Katharina, Tammer, Femke, Tyndall, Amanda, Devys, Didier, Vincent, Stéphane D., Elpeleg, Orly, Tora, László

“…Abstract Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, transcription,…”
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt by Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, Shinawi, Marwan

“…Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11…”
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders by Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., Akizu, Naiara

“…Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here,…”
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Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function by Holtz, Alexander M, Griffiths, Samuel Charles, Davis, Samantha, Bishop, Benjamin, Siebold, Christian, Allen, Benjamin L

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Abstract A51: Novel Hedgehog co-receptors in pancreatic cancer by Mathew, Esha, Zhang, Yaqing, Holtz, Alexander M., Kane, Kevin T., Song, Jane, Allen, Benjamin L., Magliano, Marina Pasca di

“…Abstract Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest human malignancies, with a dismal six month median survival. The Hedgehog (Hh)…”
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