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Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing

Haematologica (Roma), 2024-08

2024

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Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia

Frontiers in immunology, 2024-09, Vol.15, p.1373495

2024

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CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients

Haematologica (Roma), 2020-03, Vol.105 (3), p.598-609

2020

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Correction: NAMPT/SIRT2-mediated inhibition of the p53-p21 signaling pathway is indispensable for maintenance and hematopoietic differentiation of human iPS cells

Stem cell research & therapy, 2023-10, Vol.14 (1), p.1-299, Article 299

2023

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A topological refactoring design strategy yields highly stable granulopoietic proteins

Nature communications, 2022-05, Vol.13 (1), p.2948-2948, Article 2948

2022

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P458: HIPSC DISEASE MODELING TO STUDY LEUKEMIA DEVELOPMENT IN HAX1 VS ELANE ASSOCIATED CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e39781cd-n/a

2023

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Neutropenie im Kindesalter

Monatsschrift Kinderheilkunde, 2021-07, Vol.169 (7), p.659-669

2021

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Neutropenie im Kindesalter

Best practice onkologie, 2021-11, Vol.16 (11), p.532-543

2021

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PB1703: MODELING T‐CELL DEVELOPMENT AND T‐ALL INITIATION

HemaSphere, 2023-08, Vol.7 (S3), p.e25600fc-n/a

2023

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P750: A ZEBRAFISH MODEL FOR JAGN1‐ASSOCIATED SEVERE CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e69758f3-n/a

2023

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LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

Nature medicine, 2006-10, Vol.12 (10), p.1191-1197

2006

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P780: G‐CSF THERAPY IN EUROPEAN PATIENTS WITH SHWACHMAN‐DIAMOND SYNDROME

HemaSphere, 2023-08, Vol.7 (S3), p.e479202f-n/a

2023

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S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION

HemaSphere, 2023-08, Vol.7 (S3), p.e9362349-n/a

2023

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P1357: MILESTONE (MODIFYING ELANE GOLDBERG–HOGNES BOX TO INHIBIT EXPRESSION), A UNIVERSAL, SAFE AND EFFECTIVE CRISPR/CAS9N‐MEDIATED GENOME EDITING STRATEGY FOR ELANE RELATED SEVERE CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e7685678-n/a

2023

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P751: UNRAVELING THE DIFFERENT PATHOMECHANISMS OF CONGENITAL AND CYCLIC NEUTROPENIAS: CYCLIC EXPRESSION OF HEMATOPOIETIC STEM‐CELL‐SPECIFIC TRANSCRIPTION FACTORS IN CYCLIC NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e07619ff-n/a

2023

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P779: LONG‐TERM COURSE OF HAX1‐RELATED CONGENITAL NEUTROPENIA: AN ANALYSIS OF THE EUROPEAN SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY (SCNIR)

HemaSphere, 2023-08, Vol.7 (S3), p.e462517e-n/a

2023

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Aberrant G-CSFR Signaling in Congenital Neutropenia

Blood, 2013-11, Vol.122 (21), p.SCI-45-SCI-45

Skokowa, Julia

2013

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Immunneutropenien im Kindesalter: Wann sie spontan ausheilen, wann sie behandelt werden müssen

Pädiatrie : Kinder- und Jugendmedizin hautnah, 2022-12, Vol.34 (6), p.24-29

2022

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De Novo Design of Granulopoietic Proteins

Blood, 2020-11, Vol.136 (Supplement 1), p.34-35

2020

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A Zebrafish Model for Severe Congenital Neutropenia with Jagn1b-Deficiency

Blood, 2020-11, Vol.136 (Supplement 1), p.14-14

2020

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Differential Expression of C/Ebpa and Its Stem Cell-Specific Targets in Congenital Neutropenias and Cyclic Neutropenias

Blood, 2022-11, Vol.140 (Supplement 1), p.11174-11174

2022

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Hax1 Is Indispensable for Neutrophil Development in Zebrafish

Blood, 2019-11, Vol.134 (Supplement_1), p.436-436

2019

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A Pipeline for Comparison and Selection of Clinically Applicable Gene Therapy Approaches for ELANE -Associated Severe Congenital Neutropenia

Blood, 2023-11, Vol.142 (Supplement 1), p.934-934

2023

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Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation - New Preconditions for Treatment Decisions

Blood, 2022-11, Vol.140 (Supplement 1), p.994-995

2022

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Nicotinamide (NA) Treatment Improves Response to G-CSF in Severe Congenital Neutropenia (SCN) Patients

Blood, 2020-11, Vol.136 (Supplement 1), p.38-38

2020

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Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia

CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients

Correction: NAMPT/SIRT2-mediated inhibition of the p53-p21 signaling pathway is indispensable for maintenance and hematopoietic differentiation of human iPS cells

A topological refactoring design strategy yields highly stable granulopoietic proteins

P458: HIPSC DISEASE MODELING TO STUDY LEUKEMIA DEVELOPMENT IN HAX1 VS ELANE ASSOCIATED CONGENITAL NEUTROPENIA

Neutropenie im Kindesalter

Neutropenie im Kindesalter

PB1703: MODELING T‐CELL DEVELOPMENT AND T‐ALL INITIATION

P750: A ZEBRAFISH MODEL FOR JAGN1‐ASSOCIATED SEVERE CONGENITAL NEUTROPENIA

LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

P780: G‐CSF THERAPY IN EUROPEAN PATIENTS WITH SHWACHMAN‐DIAMOND SYNDROME

S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION

P1357: MILESTONE (MODIFYING ELANE GOLDBERG–HOGNES BOX TO INHIBIT EXPRESSION), A UNIVERSAL, SAFE AND EFFECTIVE CRISPR/CAS9N‐MEDIATED GENOME EDITING STRATEGY FOR ELANE RELATED SEVERE CONGENITAL NEUTROPENIA

P751: UNRAVELING THE DIFFERENT PATHOMECHANISMS OF CONGENITAL AND CYCLIC NEUTROPENIAS: CYCLIC EXPRESSION OF HEMATOPOIETIC STEM‐CELL‐SPECIFIC TRANSCRIPTION FACTORS IN CYCLIC NEUTROPENIA

P779: LONG‐TERM COURSE OF HAX1‐RELATED CONGENITAL NEUTROPENIA: AN ANALYSIS OF THE EUROPEAN SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY (SCNIR)

Aberrant G-CSFR Signaling in Congenital Neutropenia

Immunneutropenien im Kindesalter: Wann sie spontan ausheilen, wann sie behandelt werden müssen

De Novo Design of Granulopoietic Proteins

A Zebrafish Model for Severe Congenital Neutropenia with Jagn1b-Deficiency

Differential Expression of C/Ebpa and Its Stem Cell-Specific Targets in Congenital Neutropenias and Cyclic Neutropenias

Hax1 Is Indispensable for Neutrophil Development in Zebrafish

A Pipeline for Comparison and Selection of Clinically Applicable Gene Therapy Approaches for ELANE -Associated Severe Congenital Neutropenia

Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation - New Preconditions for Treatment Decisions

Nicotinamide (NA) Treatment Improves Response to G-CSF in Severe Congenital Neutropenia (SCN) Patients

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