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1.

Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.

Venteicher, Andrew S; Meng, Zhaojing; Mason, Philip J; Veenstra, Timothy D; Artandi, Steven E.

Cell ; 132(6): 945-57, 2008 Mar 21.

Article in English | MEDLINE | ID: mdl-18358808

2.

Clonal hematopoiesis in patients with dyskeratosis congenita.

Perdigones, Nieves; Perin, Juan C; Schiano, Irene; Nicholas, Peter; Biegel, Jaclyn A; Mason, Philip J; Babushok, Daria V; Bessler, Monica.

Am J Hematol ; 91(12): 1227-1233, 2016 12.

Article in English | MEDLINE | ID: mdl-27622320

3.

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.

Garçon, Loïc; Ge, Jingping; Manjunath, Shwetha H; Mills, Jason A; Apicella, Marisa; Parikh, Shefali; Sullivan, Lisa M; Podsakoff, Gregory M; Gadue, Paul; French, Deborah L; Mason, Philip J; Bessler, Monica; Weiss, Mitchell J.

Blood ; 122(6): 912-21, 2013 Aug 08.

Article in English | MEDLINE | ID: mdl-23744582

4.

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Babushok, Daria V; Xie, Hongbo M; Roth, Jacquelyn J; Perdigones, Nieves; Olson, Timothy S; Cockroft, Joshua D; Gai, Xiaowu; Perin, Juan C; Li, Yimei; Paessler, Michele E; Hakonarson, Hakon; Podsakoff, Gregory M; Mason, Philip J; Biegel, Jaclyn A; Bessler, Monica.

Br J Haematol ; 164(1): 73-82, 2014 Jan.

Article in English | MEDLINE | ID: mdl-24116929

5.

3'UTR-truncated Hmga2 cDNA causes MPN-like hematopoiesis by conferring a clonal growth advantage at the level of HSC in mice.

Ikeda, Kazuhiko; Mason, Philip J; Bessler, Monica.

Blood ; 117(22): 5860-9, 2011 Jun 02.

Article in English | MEDLINE | ID: mdl-21460244

6.

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients.

Babushok, Daria V; Li, Yimei; Roth, Jacquelyn J; Perdigones, Nieves; Cockroft, Joshua D; Biegel, Jaclyn A; Mason, Philip J; Bessler, Monica.

Am J Hematol ; 88(10): 862-7, 2013 Oct.

Article in English | MEDLINE | ID: mdl-23798465

7.

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Vogiatzi, Paraskevi; Perdigones, Nieves; Mason, Philip J; Wilson, David B; Bessler, Monica.

Pediatr Blood Cancer ; 60(6): E4-6, 2013 Jun.

Article in English | MEDLINE | ID: mdl-23335200

8.

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Vulliamy, Tom; Marrone, Anna; Szydlo, Richard; Walne, Amanda; Mason, Philip J; Dokal, Inderjeet.

Nat Genet ; 36(5): 447-9, 2004 May.

Article in English | MEDLINE | ID: mdl-15098033

9.

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.

Draper, Nicole; Walker, Elizabeth A; Bujalska, Iwona J; Tomlinson, Jeremy W; Chalder, Susan M; Arlt, Wiebke; Lavery, Gareth G; Bedendo, Oliver; Ray, David W; Laing, Ian; Malunowicz, Ewa; White, Perrin C; Hewison, Martin; Mason, Philip J; Connell, John M; Shackleton, Cedric H L; Stewart, Paul M.

Nat Genet ; 34(4): 434-9, 2003 Aug.

Article in English | MEDLINE | ID: mdl-12858176

10.

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Du, Hong-Yan; Pumbo, Elena; Ivanovich, Jennifer; An, Ping; Maziarz, Richard T; Reiss, Ulrike M; Chirnomas, Deborah; Shimamura, Akiko; Vlachos, Adrianna; Lipton, Jeffrey M; Goyal, Rakesh K; Goldman, Frederick; Wilson, David B; Mason, Philip J; Bessler, Monica.

Blood ; 113(2): 309-16, 2009 Jan 08.

Article in English | MEDLINE | ID: mdl-18931339

11.

SnoRNA microarray analysis reveals changes in H/ACA and C/D RNA levels caused by dyskerin ablation in mouse liver.

Ge, Jingping; Crosby, Seth D; Heinz, Michael E; Bessler, Monica; Mason, Philip J.

Biochem J ; 429(1): 33-41, 2010 Jul 01.

Article in English | MEDLINE | ID: mdl-20423331

12.

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.

Gu, Bai-Wei; Bessler, Monica; Mason, Philip J.

Proc Natl Acad Sci U S A ; 105(29): 10173-8, 2008 Jul 22.

Article in English | MEDLINE | ID: mdl-18626023

13.

The role of human ribosomal proteins in the maturation of rRNA and ribosome production.

Robledo, Sara; Idol, Rachel A; Crimmins, Dan L; Ladenson, Jack H; Mason, Philip J; Bessler, Monica.

RNA ; 14(9): 1918-29, 2008 Sep.

Article in English | MEDLINE | ID: mdl-18697920

14.

Poikiloderma with neutropenia: beginning at the end.

Mason, Philip J; Bessler, Monica.

Blood ; 121(6): 872-4, 2013 Feb 07.

Article in English | MEDLINE | ID: mdl-23393019

15.

Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association.

McDonald, Sharon; Wilson, David B; Pumbo, Elena; Kulkarni, Shashikant; Mason, Philip J; Else, Tobias; Bessler, Monica; Ferkol, Thomas; Shenoy, Shalini.

Pediatr Blood Cancer ; 54(1): 154-7, 2010 Jan.

Article in English | MEDLINE | ID: mdl-19760774

16.

Variable expression of Dkc1 mutations in mice.

He, Jun; Gu, Bai-Wei; Ge, Jingping; Mochizuki, Yuko; Bessler, Monica; Mason, Philip J.

Genesis ; 47(6): 366-73, 2009 Jun.

Article in English | MEDLINE | ID: mdl-19391112

17.

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.

Du, Hong-Yan; Idol, Rachel; Robledo, Sara; Ivanovich, Jennifer; An, Ping; Londono-Vallejo, Arturo; Wilson, David B; Mason, Philip J; Bessler, Monica.

Aging Cell ; 6(5): 689-97, 2007 Oct.

Article in English | MEDLINE | ID: mdl-17875000

18.

G6PD deficiency: the genotype-phenotype association.

Mason, Philip J; Bautista, José M; Gilsanz, Florinda.

Blood Rev ; 21(5): 267-83, 2007 Sep.

Article in English | MEDLINE | ID: mdl-17611006

19.

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Parikh, Shefali; Perdigones, Nieves; Paessler, Michelle; Greenbaum, Barbara; Tooke, Laura S; Biegel, Jaclyn A; Mason, Philip J; Bessler, Monica.

Br J Haematol ; 159(4): 480-2, 2012 Nov.

Article in English | MEDLINE | ID: mdl-22934832

20.

Hmga2 collaborates with JAK2V617F in the development of myeloproliferative neoplasms.

Ueda, Koki; Ikeda, Kazuhiko; Ikezoe, Takayuki; Harada-Shirado, Kayo; Ogawa, Kazuei; Hashimoto, Yuko; Sano, Takahiro; Ohkawara, Hiroshi; Kimura, Satoshi; Shichishima-Nakamura, Akiko; Nakamura, Yuichi; Shikama, Yayoi; Mori, Tsutomu; Mason, Philip J; Bessler, Monica; Morishita, Soji; Komatsu, Norio; Shide, Kotaro; Shimoda, Kazuya; Koide, Shuhei; Aoyama, Kazumasa; Oshima, Motohiko; Iwama, Atsushi; Takeishi, Yasuchika.

Blood Adv ; 1(15): 1001-1015, 2017 Jun 27.

Article in English | MEDLINE | ID: mdl-29296743

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