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Open AccessCD32 captures committed haemogenic endothelial cells during human embryonic development
During embryonic development, blood cells emerge from specialized endothelial cells, named haemogenic endothelial cells (HECs). As HECs are rare and only transiently found in early develo** embryos, it remai...
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Genetics of Osteopetrosis
The term osteopetrosis refers to a group of rare skeletal diseases sharing the hallmark of a generalized increase in bone density owing to a defect in bone resorption. Osteopetrosis is clinically and genetical...
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Article
Open AccessA pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells
The clustered regularly interspaced short palindromic repeat (CRISPR)/associated 9 (Cas9) technology has been recently added to the tools allowing efficient and easy DNA targeting, representing a very promisin...
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Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience
Severe combined immunodeficiency (SCID), including the ‘variant’ Omenn syndrome (OS), represent a heterogeneous group of monogenic disorders characterized by defect in differentiation of T- and/or B lymphocyte...
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Osteopetrosis: genetics, treatment and new insights into osteoclast function
Sobacchi and colleagues discuss the clinical presentation and diagnosis of autosomal recessive osteopetrosis, a rare genetic condition characterized by increased bone mass. With a specific focus on genes linke...
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The influence of plasma technology coupled to chemical grafting on the cell growth compliance of 3D hydroxyapatite scaffolds
The development of advanced materials with biomimetic features in order to elicit desired biological responses and to guarantee tissue biocompatibility is recently gaining attention for tissue engineering appl...
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A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient
Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Mutations in the CLCN7 gene are responsible not only for a substan...
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Open AccessOmenn Syndrome: inflammation and autoimmunity
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Article
Severe Combined Immunodeficiency in Greek Children over a 20-Year Period
Severe combined immunodeficiencies (SCID) are a heterogeneous group of genetic disorders characterized by a blockade or impairment of both cellular and humoral immunity. Several epidemiological studies in diff...
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Impaired gastric acidification negatively affects calcium homeostasis and bone mass
Proper calcium levels are needed to maintain healthy bones. Michael Amling and his colleagues now show that gastric acidification is a key part of in this process. These findings have possible important clinic...
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Reference Work Entry In depth
Osteopetrosis
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Article
Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in osteoclasts, bone resorption is prevented. The deficit could arise either from failure in osteoclast differentiat...
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Article
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation
Hematopoietic stem cell transplantation (HSCT) is often the only practical approach to fatal genetic defects. One of the first pathologies which HSCT was applied to was Autosomal Recessive Osteopetrosis (ARO),...
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Article
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor–K...
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Article
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
The spontaneous mouse grey-lethal (gl) mutation is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Using a positional cloning approach, we...
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Article
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome
Mutations in the CD40 ligand (CD40L) are responsible for human hyper immunoglobulin M (IgM) syndrome. The absence of the interaction between CD40L, expressed by T lymphocytes, and the CD40 receptor present on ...
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Article
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
Osteopetrosis includes a group of inherited diseases in which inadequate bone resorption is caused by osteoclast dysfunction. Although molecular defects have been described for many animal models of osteopetro...
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Article
Omenn Syndrome: A Disorder of Rag1 and Rag2 Genes
In vertebrates, generation of the T- and B-cell repertoire relies on genomic rearrangement of T-cell receptor and immunoglobulin gene coding segments. This process, known as V(D)J recombination, is initiated b...
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Article
Severe combined immune deficiencies due to defects of the common γ chain-JAK3 signaling pathway
The recent elucidation of the molecular basis of T−B+SCID has led to significant advances in both basic and clinical immunology. The demonstration of mutation of lye and JAK3 as the pathogenetic basis for X-linke...
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Article
Establishment and characterization of a new mammary adenocarcinoma cell line derived from MMTV neu transgenic mice
A new murine cell line, named MG1361, was established from mammary adenocarcinomas arising in a MMTV-neu transgenic mouse lineage where breast tumors develop in 100% of females, due to the over-expression of t...
