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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

Shah, Sohela ; Schrader, Kasmintan A ; Waanders, Esmé ; [et al.]

Springer Science and Business Media LLC ; 2013

In: Nature Genetics Vol. 45, No. 10 ( 2013-10), p. 1226-1231

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 45, No. 10 ( 2013-10), p. 1226-1231

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.2754

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2013

detail.hit.zdb_id: 1494946-5

SSG: 12

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A Dominantly Acting Murine Allele of Mcm4 Causes Chromosomal Abnormalities and Promotes Tumorigenesis

Bagley, Bruce N. ; Keane, Thomas M. ; Maklakova, Vilena I. ; [et al.]

Public Library of Science (PLoS) ; 2012

In: PLoS Genetics Vol. 8, No. 11 ( 2012-11-1), p. e1003034-

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In: PLoS Genetics, Public Library of Science (PLoS), Vol. 8, No. 11 ( 2012-11-1), p. e1003034-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1003034

DOI: 10.1371/journal.pgen.1003034.g001

DOI: 10.1371/journal.pgen.1003034.g002

DOI: 10.1371/journal.pgen.1003034.g003

DOI: 10.1371/journal.pgen.1003034.g004

DOI: 10.1371/journal.pgen.1003034.g005

DOI: 10.1371/journal.pgen.1003034.g006

DOI: 10.1371/journal.pgen.1003034.t001

DOI: 10.1371/journal.pgen.1003034.t002

DOI: 10.1371/journal.pgen.1003034.t003

DOI: 10.1371/journal.pgen.1003034.s001

DOI: 10.1371/journal.pgen.1003034.s002

DOI: 10.1371/journal.pgen.1003034.s003

DOI: 10.1371/journal.pgen.1003034.s004

DOI: 10.1371/journal.pgen.1003034.s005

DOI: 10.1371/journal.pgen.1003034.s006

DOI: 10.1371/journal.pgen.1003034.s007

DOI: 10.1371/journal.pgen.1003034.s008

DOI: 10.1371/journal.pgen.1003034.s009

DOI: 10.1371/journal.pgen.1003034.s010

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2012

detail.hit.zdb_id: 2186725-2

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Tudini, Emma ; Andrews, James ; Lawrence, David M. ; [et al.]

Elsevier BV ; 2022

In: The American Journal of Human Genetics Vol. 109, No. 11 ( 2022-11), p. 1960-1973

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 109, No. 11 ( 2022-11), p. 1960-1973

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2022.10.006

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2022

detail.hit.zdb_id: 1473813-2

SSG: 12

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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T. ; [et al.]

Springer Science and Business Media LLC ; 2023

In: Nature Medicine

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In: Nature Medicine, Springer Science and Business Media LLC

Type of Medium: Online Resource

ISSN: 1078-8956 , 1546-170X

URL: Article

DOI: 10.1038/s41591-023-02487-1

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2023

detail.hit.zdb_id: 1484517-9

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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T. ; [et al.]

Springer Science and Business Media LLC ; 2023

In: Nature Medicine Vol. 29, No. 1 ( 2023-01), p. 180-189

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In: Nature Medicine, Springer Science and Business Media LLC, Vol. 29, No. 1 ( 2023-01), p. 180-189

Abstract: Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.

Type of Medium: Online Resource

ISSN: 1078-8956 , 1546-170X

URL: Article

DOI: 10.1038/s41591-022-02142-1

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2023

detail.hit.zdb_id: 1484517-9

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine Vol. 25, No. 2 ( 2023-02), p. 100004-

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In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 2 ( 2023-02), p. 100004-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2022.100004

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

SSG: 12

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Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling

Brown, Anna L ; Wilkinson, Christopher R ; Waterman, Scott R ; [et al.]

Oxford University Press (OUP) ; 2006

In: Journal of Leukocyte Biology Vol. 80, No. 2 ( 2006-06-12), p. 433-447

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In: Journal of Leukocyte Biology, Oxford University Press (OUP), Vol. 80, No. 2 ( 2006-06-12), p. 433-447

Abstract: Mechanisms controlling the balance between proliferation and self-renewal versus growth suppression and differentiation during normal and leukemic myelopoiesis are not understood. We have used the bi-potent FDB1 myeloid cell line model, which is responsive to myelopoietic cytokines and activated mutants of the granulocyte macrophage-colony stimulating factor (GM-CSF) receptor, having differential signaling and leukemogenic activity. This model is suited to large-scale gene-profiling, and we have used a factorial time-course design to generate a substantial and powerful data set. Linear modeling was used to identify gene-expression changes associated with continued proliferation, differentiation, or leukemic receptor signaling. We focused on the changing transcription factor profile, defined a set of novel genes with potential to regulate myeloid growth and differentiation, and demonstrated that the FDB1 cell line model is responsive to forced expression of oncogenes identified in this study. We also identified gene-expression changes associated specifically with the leukemic GM-CSF receptor mutant, V449E. Signaling from this receptor mutant down-regulates CCAAT/enhancer-binding protein α (C/EBPα) target genes and generates changes characteristic of a specific acute myeloid leukemia signature, defined previously by gene-expression profiling and associated with C/EBPα mutations.

Type of Medium: Online Resource

ISSN: 1938-3673 , 0741-5400

URL: Article

DOI: 10.1189/jlb.0206112

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2006

detail.hit.zdb_id: 2026833-6

SSG: 12

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Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance

Hubert, François-Xavier ; Kinkel, Sarah A. ; Davey, Gayle M. ; [et al.]

American Society of Hematology ; 2011

In: Blood Vol. 118, No. 9 ( 2011-09-01), p. 2462-2472

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In: Blood, American Society of Hematology, Vol. 118, No. 9 ( 2011-09-01), p. 2462-2472

Abstract: To investigate the role of Aire in thymic selection, we examined the cellular requirements for generation of ovalbumin (OVA)–specific CD4 and CD8 T cells in mice expressing OVA under the control of the rat insulin promoter. Aire deficiency reduced the number of mature single-positive OVA-specific CD4+ or CD8+ T cells in the thymus, independent of OVA expression. Importantly, it also contributed in 2 ways to OVA-dependent negative selection depending on the T-cell type. Aire-dependent negative selection of OVA-specific CD8 T cells correlated with Aire-regulated expression of OVA. By contrast, for OVA-specific CD4 T cells, Aire affected tolerance induction by a mechanism that operated independent of the level of OVA expression, controlling access of antigen presenting cells to medullary thymic epithelial cell (mTEC)–expressed OVA. This study supports the view that one mechanism by which Aire controls thymic negative selection is by regulating the indirect presentation of mTEC-derived antigens by thymic dendritic cells. It also indicates that mTECs can mediate tolerance by direct presentation of Aire-regulated antigens to both CD4 and CD8 T cells.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood-2010-06-286393

RVK:

XA 33000

RVK:

XA 10000

Language: English

Publisher: American Society of Hematology

Publication Date: 2011

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline ; [et al.]

Elsevier BV ; 2022

In: Genetics in Medicine Vol. 24, No. 8 ( 2022-08), p. 1753-1760

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In: Genetics in Medicine, Elsevier BV, Vol. 24, No. 8 ( 2022-08), p. 1753-1760

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2022.04.010

Language: English

Publisher: Elsevier BV

Publication Date: 2022

detail.hit.zdb_id: 2063504-7

SSG: 12

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Short-term inhibition of p53 combined with keratinocyte growth factor improves thymic epithelial cell recovery and enhances T-cell reconstitution after murine bone marrow transplantation

Kelly, Ryan M. ; Goren, Emily M. ; Taylor, Patricia A. ; [et al.]

American Society of Hematology ; 2010

In: Blood Vol. 115, No. 5 ( 2010-02-04), p. 1088-1097

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In: Blood, American Society of Hematology, Vol. 115, No. 5 ( 2010-02-04), p. 1088-1097

Abstract: Myeloablative conditioning before bone marrow transplantation (BMT) results in thymic epithelial cell (TEC) injury, T-cell immune deficiency, and susceptibility to opportunistic infections. Conditioning regimen–induced TEC damage directly contributes to slow thymopoietic recovery after BMT. Keratinocyte growth factor (KGF) is a TEC mitogen that stimulates proliferation and, when given before conditioning, reduces TEC injury. Some TEC subsets are refractory to KGF and functional T-cell responses are not fully restored in KGF-treated BM transplant recipients. Therefore, we investigated whether the addition of a pharmacologic inhibitor, PFT-β, to transiently inhibit p53 during radiotherapy could spare TECs from radiation-induced damage in congenic and allogeneic BMTs. Combined before BMT KGF + PFT-β administration additively restored numbers of cortical and medullary TECs and improved thymic function after BMT, resulting in higher numbers of donor-derived, naive peripheral CD4+ and CD8+ T cells. Radiation conditioning caused a loss of T-cell zone fibroblastic reticular cells (FRCs) and CCL21 expression in lymphoid stroma. KGF + PFT-β treatment restored both FRC and CCL21 expression, findings that correlated with improved T-cell reconstitution and an enhanced immune response against Listeria monocytogenes infection. Thus, transient p53 inhibition combined with KGF represents a novel and potentially translatable approach to promote rapid and durable thymic and peripheral T-cell recovery after BMT.

Type of Medium: Online Resource

ISSN: 0006-4971 , 1528-0020

URL: Article

DOI: 10.1182/blood-2009-05-223198

RVK:

XA 33000

RVK:

XA 10000

Language: English

Publisher: American Society of Hematology

Publication Date: 2010

detail.hit.zdb_id: 1468538-3

detail.hit.zdb_id: 80069-7

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