共 4 条
[1]
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
[J].
Beck, David B.
;
Ferrada, Marcela A.
;
Sikora, Keith A.
;
Ombrello, Amanda K.
;
Collins, Jason C.
;
Pei, Wuhong
;
Balanda, Nicholas
;
Ross, Daron L.
;
Ospina Cardona, Daniela
;
Wu, Zhijie
;
Patel, Bhavisha
;
Manthiram, Kalpana
;
Groarke, Emma M.
;
Gutierrez-Rodrigues, Fernanda
;
Hoffmann, Patrycja
;
Rosenzweig, Sofia
;
Nakabo, Shuichiro
;
Dillon, Laura W.
;
Hourigan, Christopher S.
;
Tsai, Wanxia L.
;
Gupta, Sarthak
;
Carmona-Rivera, Carmelo
;
Asmar, Anthony J.
;
Xu, Lisha
;
Oda, Hirotsugu
;
Goodspeed, Wendy
;
Barron, Karyl S.
;
Nehrebecky, Michele
;
Jones, Anne
;
Laird, Ryan S.
;
Deuitch, Natalie
;
Rowczenio, Dorota
;
Rominger, Emily
;
Wells, Kristina V.
;
Lee, Chyi-Chia R.
;
Wang, Weixin
;
Trick, Megan
;
Mullikin, James
;
Wigerblad, Gustaf
;
Brooks, Stephen
;
Dell'Orso, Stefania
;
Deng, Zuoming
;
Chae, Jae J.
;
Dulau-Florea, Alina
;
Malicdan, May C. V.
;
Novacic, Danica
;
Colbert, Robert A.
;
Kaplan, Mariana J.
;
Gadina, Massimo
;
Savic, Sinisa
.
NEW ENGLAND JOURNAL OF MEDICINE,
2020, 383 (27)
:2628-2638

Beck, David B.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ferrada, Marcela A.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAMSD, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Sikora, Keith A.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ombrello, Amanda K.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Collins, Jason C.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Pei, Wuhong
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Balanda, Nicholas
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ross, Daron L.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA
Royal Free Hosp London NHS Fdn Trust, Natl Amyloidosis Ctr, London, England NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Ospina Cardona, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wu, Zhijie
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Patel, Bhavisha
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Manthiram, Kalpana
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Groarke, Emma M.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Gutierrez-Rodrigues, Fernanda
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Hoffmann, Patrycja
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Rosenzweig, Sofia
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Nakabo, Shuichiro
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Dillon, Laura W.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Hourigan, Christopher S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Tsai, Wanxia L.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Gupta, Sarthak
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Carmona-Rivera, Carmelo
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Asmar, Anthony J.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Xu, Lisha
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Oda, Hirotsugu
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Goodspeed, Wendy
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Barron, Karyl S.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Nehrebecky, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Jones, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Laird, Ryan S.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Deuitch, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Rowczenio, Dorota
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Rominger, Emily
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wells, Kristina V.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Lee, Chyi-Chia R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, Pathol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wang, Weixin
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, Dept Lab Med, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Trick, Megan
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, Dept Lab Med, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Mullikin, James
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Intramural Sequencing Ctr, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Wigerblad, Gustaf
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Brooks, Stephen
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Dell'Orso, Stefania
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Deng, Zuoming
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Chae, Jae J.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Dulau-Florea, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
NEI, Dept Lab Med, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Malicdan, May C. V.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NIAMSD, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Novacic, Danica
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
NIAMSD, NIH, Bldg 10, Bethesda, MD 20892 USA
NHLBI, Undiagnosed Dis Program, Common Fund, Off Director,NIH, Bldg 10, Bethesda, MD 20892 USA NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Colbert, Robert A.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Kaplan, Mariana J.
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Gadina, Massimo
论文数: 0 引用数: 0
h-index: 0
机构: NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA

Savic, Sinisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Natl Inst Hlth Res, Leeds Biomed Res Ctr, Leeds, W Yorkshire, England
Univ Leeds, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England NHGRI, NIH, Bldg 10, Bethesda, MD 20892 USA
[2]
The genetic basis of idiopathic pulmonary fibrosis
[J].
Kropski, Jonathan A.
;
Blackwell, Timothy S.
;
Loyd, James E.
.
EUROPEAN RESPIRATORY JOURNAL,
2015, 45 (06)
:1717-1727

Kropski, Jonathan A.
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Blackwell, Timothy S.
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA
Vanderbilt Univ, Sch Med, Dept Cell & Dev Biol, Nashville, TN 37232 USA
Vanderbilt Univ, Sch Med, Dept Canc Biol, Nashville, TN 37232 USA
Dept Vet Affairs Med Ctr, Nashville, TN 37212 USA Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Loyd, James E.
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA
[3]
Ubiquitination and deubiquitination emerge as players in idiopathic pulmonary fibrosis pathogenesis and treatment
[J].
Li, Shuang
;
Zhao, Jing
;
Shang, Dong
;
Kass, Daniel J.
;
Zhao, Yutong
.
JCI INSIGHT,
2018, 3 (10)

Li, Shuang
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA
Dalian Med Univ, Affiliated Hosp 1, Dept Gen Surg, Dalian, Liaoning, Peoples R China Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA

Zhao, Jing
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA
Univ Pittsburgh, Sch Med, Acute Lung Injury Ctr Excellence, Pittsburgh, PA USA Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA

Shang, Dong
论文数: 0 引用数: 0
h-index: 0
机构:
Dalian Med Univ, Affiliated Hosp 1, Dept Gen Surg, Dalian, Liaoning, Peoples R China Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA

Kass, Daniel J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA

Zhao, Yutong
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA
Univ Pittsburgh, Sch Med, Acute Lung Injury Ctr Excellence, Pittsburgh, PA USA Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15213 USA
[4]
Somatic genetic rescue in Mendelian haematopoietic diseases
[J].
Revy, Patrick
;
Kannengiesser, Caroline
;
Fischer, Alain
.
NATURE REVIEWS GENETICS,
2019, 20 (10)
:582-598

Revy, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM UMR 1163, Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, F-1163 Paris, France
Sorbonne Paris Cite Univ, Imagine Inst, Paris Descartes, Paris, France INSERM UMR 1163, Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, F-1163 Paris, France

Kannengiesser, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Genet, Paris, France
Univ Paris Diderot, Sorbonne Paris Cite, Paris, France INSERM UMR 1163, Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, F-1163 Paris, France

Fischer, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Paris Cite Univ, Imagine Inst, Paris Descartes, Paris, France
Coll France, Chaire Med Expt, Paris, France
Hop Necker Enfants Malad, AP HP, Unite Immunol Hematol & Rhumatol Pediat, Paris, France
INSERM UMR 1163, Imagine Inst, Paris, France INSERM UMR 1163, Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, F-1163 Paris, France