Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Desiree DeMille"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 1, Pp 33-46 (2019)
PAS kinase 1 (Psk1) is a key regulator of respiration in Saccharomyces cerevisiae. Herein the molecular mechanisms of this regulation are explored through the characterization of its substrate, Centromere binding factor 1 (Cbf1). CBF1-deficient yeast
Externí odkaz:
https://doaj.org/article/889f639431aa42269f6b9d993098f09e
Autor:
Desiree DeMille, Pinar Bayrak-Toydemir, Kevin J. Whitehead, Whitney Wooderchak-Donahue, Jamie McDonald
Publikováno v:
Genetics in Medicine. 22:1201-1205
Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals who meet consensus (Curacao) criteria for the clinical diagnosis of hereditary hemorrhagic telangiectasia. Review of HHT center database for individuals with three or more
Publikováno v:
G3: Genes|Genomes|Genetics
G3: Genes, Genomes, Genetics, Vol 9, Iss 1, Pp 33-46 (2019)
G3: Genes, Genomes, Genetics, Vol 9, Iss 1, Pp 33-46 (2019)
PAS kinase 1 (Psk1) is a key regulator of respiration in Saccharomyces cerevisiae. Herein the molecular mechanisms of this regulation are explored through the characterization of its substrate, Centromere binding factor 1 (Cbf1). CBF1-deficient yeast
Autor:
Jamie, McDonald, Pinar, Bayrak-Toydemir, Desiree, DeMille, Whitney, Wooderchak-Donahue, Kevin, Whitehead
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(7)
Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals who meet consensus (Curaçao) criteria for the clinical diagnosis of hereditary hemorrhagic telangiectasia.Review of HHT center database for individuals with three or more
Autor:
John C. Carey, Janice C. Palumbos, Colleen M. Carlston, Oliver H. Tam, David Viskochil, Heather J. Stalker, Desiree DeMille, Rong Mao, Roberto T. Zori, Albert H. Park
Publikováno v:
American journal of medical genetics. Part A. 176(4)
Connexin 26 (Cx26), encoded by the GJB2 gene, is a key protein involved in the formation of gap junctions in epithelial organs including the inner ear and palmoplantar epidermis. Pathogenic variants in GJB2 are responsible for approximately 50% of in
Autor:
Desiree DeMille, Tacie D. Hall, Jordan T. Mackay, John T. Prince, Andrew D. Mathis, Benjamin T. Bikman, Julianne H. Grose, Steven W. Sowa
Publikováno v:
Molecular Biology of the Cell
PAS kinase is a conserved sensory protein kinase required for glucose homeostasis. The interactome for yeast PAS kinase 1 (Psk1) is identified, revealing 93 binding partners. Evidence is provided for in vivo phosphorylation of Cbf1 and subsequent inh
Autor:
Desiree DeMille, Julianne H. Grose
Publikováno v:
IUBMB Life. 65:921-929
Per-Arnt-Sim (PAS) kinase (PASK, PASKIN, and PSK) is a member of the group of nutrient sensing protein kinases. These protein kinases sense the energy or nutrient status of the cell and regulate cellular metabolism appropriately. PAS kinase responds
Autor:
J. Brady Evans, Bryan D. Badal, Joseph F. Anderson, Andrew D. Mathis, Desiree DeMille, Julianne H. Grose
Publikováno v:
Molecular Biology of the Cell
The interplay between AMPK, Psk1, and TORC1 reduces cell growth and proliferation when energy is low. This interplay occurs through Snf1-dependent activation of Psk1, followed by phosphorylation of poly(A)-binding protein binding protein 1 (Pbp1) and