Defective monocyte plasticity and altered cAMP pathway characterize USB1‐mutated poikiloderma with neutropenia Clericuzio type

USB1 is a miRNA deadenylase that regulates hematopoietic development

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Senescence-associated secretory proteins induced in lung adenocarcinoma by extended treatment with dexamethasone enhance migration and activation of lymphocytes

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ITGA9 Inhibits Proliferation and Migration of Dermal Microvascular Endothelial Cells in Psoriasis

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Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia

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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

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When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis

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(2020) Wenting Dai et al.   CLINICAL GENETICS

Cyclic AMP Regulates Key Features of Macrophages via PKA: Recruitment, Reprogramming and Efferocytosis

(2020) Graziele L. Negreiros-Lima et al.   Cells

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis

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CD14/16 monocyte profiling in juvenile myelomonocytic leukemia

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Genomic Characterization of Murine Monocytes Reveals C/EBPβ Transcription Factor Dependence of Ly6C − Cells

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Integrin beta 1 inhibition alleviates the chronic hyperproliferative dermatitis phenotype of SHARPIN-deficient mice

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The cAMP Pathway as Therapeutic Target in Autoimmune and Inflammatory Diseases

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Characteristic repartition of monocyte subsets as a diagnostic signature of chronic myelomonocytic leukemia

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Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia

(2015) Prakash Patil et al.   RNA Biology

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(2015) Jason A. Mills et al.   Stem Cell Research

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

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AKAP6 inhibition impairs myoblast differentiation and muscle regeneration: Positive loop between AKAP6 and myogenin

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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

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Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Poikiloderma with Neutropenia: Report of Three Cases Including One with Calcinosis Cutis

(2011) Rattanavalai Chantorn et al.   PEDIATRIC DERMATOLOGY

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

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(2010) L. Ziegler-Heitbrock et al.   BLOOD

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

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Resolution-phase macrophages possess a unique inflammatory phenotype that is controlled by cAMP

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