Search Results - "WINCOVITCH, Stephen"

Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations by Cabral, Wayne A, Stephan, Chris, Terajima, Masahiko, Thaivalappil, Abhirami A, Blanchard, Owen, Tavarez, Urraca L, Narisu, Narisu, Yan, Tingfen, Wincovitch, Stephen M, Taga, Yuki, Yamauchi, Mitsuo, Kozloff, Kenneth M, Erdos, Michael R, Collins, Francis S

“…Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder affecting tissues of mesenchymal origin. Most individuals with HGPS harbor a de novo…”
Get full text

SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane by Bernard, David J., Pangilinan, Faith, Mendina, Caitlin, Desporte, Tara, Wincovitch, Stephen M., Walsh, Darren J., Porter, Richard K., Molloy, Anne M., Shane, Barry, Brody, Lawrence C.

“…Choline contributes to the biogenesis of methyl groups, neurotransmitters, and cell membranes. Our genome-wide association study (GWAS) of circulating choline…”
Get full text

A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease by Furderer, Makaila L, Berhe, Bahafta, Chen, Tiffany C, Wincovitch, Stephen, Jiang, Xuntian, Tayebi, Nahid, Sidransky, Ellen, Han, Tae-Un

“…Gaucher disease (GD) is a lysosomal storage disorder stemming from biallelic mutations in , characterized by glucocerebrosidase dysfunction and…”
Get full text

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome by Abudi-Sinreich, Shachar, Bodine, Steven P, Yokoyama, Tadafumi, Tolman, Nathanial J, Tyrlik, Michal, Testa, Lauren C, Han, Chen G, Dorward, Heidi M, Wincovitch, Stephen M, Anikster, Yair, Gahl, William A, Cinar, Resat, Gochuico, Bernadette R, Malicdan, May Christine V

“…HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to…”
Get full text

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1 by Rodriguez-Gil, Jorge L, Watkins-Chow, Dawn E, Baxter, Laura L, Elliot, Gene, Harper, Ursula L, Wincovitch, Stephen M, Wedel, Julia C, Incao, Arturo A, Huebecker, Mylene, Boehm, Frederick J, Garver, William S, Porter, Forbes D, Broman, Karl W, Platt, Frances M, Pavan, William J

“…Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and…”
Get full text

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress by Rissone, Alberto, Weinacht, Katja Gabriele, la Marca, Giancarlo, Bishop, Kevin, Giocaliere, Elisa, Jagadeesh, Jayashree, Felgentreff, Kerstin, Dobbs, Kerry, Al-Herz, Waleed, Jones, Marypat, Chandrasekharappa, Settara, Kirby, Martha, Wincovitch, Stephen, Simon, Karen Lyn, Itan, Yuval, DeVine, Alex, Schlaeger, Thorsten, Schambach, Axel, Sood, Raman, Notarangelo, Luigi D, Candotti, Fabio

“…Adenylate kinases (AKs) are phosphotransferases that regulate the cellular adenine nucleotide composition and play a critical role in the energy homeostasis of…”
Get full text

A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress by Rissone, Alberto, Jimenez, Erin, Bishop, Kevin, Carrington, Blake, Slevin, Claire, Wincovitch, Stephen M, Sood, Raman, Candotti, Fabio, Burgess, Shawn M

“…Mutations in the gene are responsible for reticular dysgenesis (RD), a rare and severe form of primary immunodeficiency in children. RD patients have a…”
Get full text

Multispectral imaging of clinically relevant cellular targets in tonsil and lymphoid tissue using semiconductor quantum dots by Fountaine, Thomas J, Wincovitch, Stephen M, Geho, David H, Garfield, Susan H, Pittaluga, Stefania

“…Determination of the expression and spatial distribution of molecular epitopes, or antigens, in patient tissue specimens has substantially improved the…”
Get full text

Incomplete splicing, cell division defects, and hematopoietic blockage in dhx8 mutant zebrafish by English, Milton A., Lei, Lin, Blake, Trevor, Wincovitch Sr, Stephen M., Sood, Raman, Azuma, Mizuki, Hickstein, Dennis, Liu, P. Paul

“…Background: Vertebrate hematopoiesis is a complex developmental process that is controlled by genes in diverse pathways. To identify novel genes involved in…”
Get full text

Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation by Pilon, Andre M., Ajay, Subramanian S., Kumar, Swathi Ashok, Steiner, Laurie A., Cherukuri, Praveen F., Wincovitch, Stephen, Anderson, Stacie M., Mullikin, James C., Gallagher, Patrick G., Hardison, Ross C., Margulies, Elliott H., Bodine, David M.

“…Erythropoiesis is dependent on the activity of transcription factors, including the erythroid-specific erythroid Kruppel-like factor (EKLF). ChIP followed by…”
Get full text

Melanosomal Sequestration of Cytotoxic Drugs Contributes to the Intractability of Malignant Melanomas by Chen, Kevin G., Valencia, Julio C., Lai, Barry, Zhang, Guofeng, Paterson, Jill K., Rouzaud, François, Berens, Werner, Wincovitch, Stephen M., Garfield, Susan H., Leapman, Richard D., Hearing, Vincent J., Gottesman, Michael M.

“…Multidrug resistance mechanisms underlying the intractability of malignant melanomas remain largely unknown. In this study, we demonstrate that the development…”
Get full text

Sorting Nexin 27 Protein Regulates Trafficking of a p21-activated Kinase (PAK) Interacting Exchange Factor (β-Pix)-G Protein-coupled Receptor Kinase Interacting Protein (GIT) Complex via a PDZ Domain Interaction by Valdes, Julie L., Tang, Jingrong, McDermott, Mark I., Kuo, Jean-Cheng, Zimmerman, Seth P., Wincovitch, Stephen M., Waterman, Clare M., Milgram, Sharon L., Playford, Martin P.

“…Sorting nexin 27 (SNX27) is a 62-kDa protein localized to early endosomes and known to regulate the intracellular trafficking of ion channels and receptors. In…”
Get full text

DNA damage responses by human ELG1 in S phase are important to maintain genomic integrity by Sikdar, Nilabja, Banerjee, Soma, Lee, Kyoo-young, Wincovitch, Stephen, Pak, Evgenia, Nakanishi, Koji, Jasin, Maria, Dutra, Amalia, Myung, Kyungjae

“…Genomic integrity depends on DNA replication, recombination, and repair, particularly in S phase. We demonstrate that a human homologue of yeast Elg1 plays an…”
Get full text

Rescue of an In Vitro Neuron Phenotype Identified in Niemann‐Pick Disease, Type C1 Induced Pluripotent Stem Cell‐Derived Neurons by Modulating the WNT Pathway and Calcium Signaling by Efthymiou, Anastasia G., Steiner, Joe, Pavan, William J., Wincovitch, Stephen, Larson, Denise M., Porter, Forbes D., Rao, Mahendra S., Malik, Nasir

“…This study involved the generation of an induced pluripotent stem cell line from a subject homozygous for the most frequent Niemann‐Pick disease, type C1…”
Get full text

Human ABCB6 Localizes to Both the Outer Mitochondrial Membrane and the Plasma Membrane by Paterson, Jill K, Shukla, Suneet, Black, Chelsea M, Tachiwada, Tokushi, Garfield, Susan, Wincovitch, Stephen, Ernst, David N, Agadir, Anissa, Li, Xuelin, Ambudkar, Suresh V, Szakacs, Gergely, Akiyama, Shin-ichi, Gottesman, Michael M

“…Expression of the ATP-binding cassette transporter ABCB6 has been associated with multiple cellular functions, including resistance to several cytotoxic…”
Get full text

Artificially introduced aneuploid chromosomes assume a conserved position in colon cancer cells by Sengupta, Kundan, Upender, Madhvi B, Barenboim-Stapleton, Linda, Nguyen, Quang Tri, Wincovitch, Sr, Stephen M, Garfield, Susan H, Difilippantonio, Michael J, Ried, Thomas

“…Chromosomal aneuploidy is a defining feature of carcinomas. For instance, in colon cancer, an additional copy of Chromosome 7 is not only observed in early…”
Get full text

Structural and Molecular Hair Abnormalities in Trichothiodystrophy by Liang, Christine, Morris, Andrea, Schlücker, Sebastian, Imoto, Kyoko, Price, Vera H., Menefee, Emory, Wincovitch, Stephen M., Levin, Ira W., Tamura, Deborah, Strehle, Katrin R., Kraemer, Kenneth H., DiGiovanna, John J.

“…We examined hair from 15 patients with trichothiodystrophy (TTD), a rare inherited disorder with brittle, cystine-deficient hair. They had a wide variety of…”
Get full text

ING2 Regulates the Onset of Replicative Senescence by Induction of p300-Dependent p53 Acetylation by Pedeux, Remy, Sengupta, Sagar, Shen, Jiang Cheng, Demidov, Oleg N., Saito, Shin'ichi, Onogi, Hitoshi, Kumamoto, Kensuke, Wincovitch, Stephen, Garfield, Susan H., McMenamin, Mary, Nagashima, Makoto, Grossman, Steven R., Appella, Ettore, Harris, Curtis C.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
Get full text

Effects on Ligand Interaction and Membrane Translocation of the Positively Charged Arginine Residues Situated along the C1 Domain Binding Cleft in the Atypical Protein Kinase C Isoforms by Pu, Yongmei, Peach, Megan L., Garfield, Susan H., Wincovitch, Stephen, Marquez, Victor E., Blumberg, Peter M.

“…The C1 domain zinc finger structure is highly conserved among the protein kinase C (PKC) superfamily members. As the interaction site for the second messenger…”
Get full text

Trafficking and localization of platinum complexes in cisplatin-resistant cell lines monitored by fluorescence-labeled platinum by Liang, Xing-Jie, Shen, Ding-Wu, Chen, Kevin G., Wincovitch, Stephen M., Garfield, Susan H., Gottesman, Michael M.

“…Cisplatin is a chemotherapeutic agent commonly used in the treatment of a wide variety of malignant tumors. Resistance to cisplatin represents a major obstacle…”
Get full text