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Article
Open AccessFollow-up of intramyocardial bone marrow mononuclear cell transplantation beyond 10 years
Bone marrow mononuclear cells (BMMCs) have been evaluated for their ability to improve cardiac repair and benefit patients with severe ischemic heart disease and heart failure. In our single-center trial in 20...
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Article
Open AccessSignaling pathways in human osteoclasts differentiation: ERK1/2 as a key player
Little is known about the signaling pathways involved in the differentiation of human osteoclasts. The present study evaluated the roles of the Ras/PI3K/Akt/mTOR, Ras/Raf/MEK1/2/ERK1/2, calcium-PKC, and p38 si...
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Article
Open AccessGene panel testing for breast cancer should not be used to confirm syndromic gene associations
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Article
Open AccessCraniofacial and oral alterations in patients with Neurofibromatosis 1
Neurofibromatosis type 1 (NF1) is one of the most common inherited syndromes. The literature on craniofacial alterations associated with NF1 has been limited and partially contradictory. This review is based o...
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Article
The effect of estradiol, testosterone, and human chorionic gonadotropin on the proliferation of Schwann cells with NF1 +/− or NF1 −/− genotype derived from human cutaneous neurofibromas
Dermal neurofibromas are the hallmarks of neurofibromatosis type 1 (NF1). Neurofibromas harbor Schwann cells with two different genotypes: Schwann cells which carry the germline mutation and a healthy NF1 allele ...
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Article
Open AccessCongenital anomalies in neurofibromatosis 1: a retrospective register-based total population study
Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular sy...
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Article
Open AccessDiversity of actin architecture in human osteoclasts: network of curved and branched actin supporting cell shape and intercellular micrometer-level tubes
Osteoclasts are multinucleated bone-resorbing cells with a dynamic actin cytoskeleton. Osteoclasts are derived from circulating mononuclear precursors. Confocal and stimulated emission depletion (STED) super-r...
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Reference Work Entry In depth
Neurofibromatosis 1
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Reference Work Entry In depth
Protein Kinase C Family
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Article
Open AccessBreast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors
An increased breast cancer incidence and poor survival have been reported for women with neurofibromatosis 1 (NF1). To explain the poor survival, we aimed to link the histopathology and clinical characteristic...
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Article
Open AccessIn vitro model of bone to facilitate measurement of adhesion forces and super-resolution imaging of osteoclasts
To elucidate processes in the osteoclastic bone resorption, visualise resorption and related actin reorganisation, a combination of imaging technologies and an applicable in vitro model is needed. Nanosized bone ...
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Article
Open AccessDark chocolate and reduced snack consumption in mildly hypertensive adults: an intervention study
Several studies have shown that cocoa and cocoa-containing foods have the potential to lower blood pressure and improve endothelial function. Most of the studies reporting the beneficial effects of dark chocol...
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Article
Follow-Up of Six Patients with Neurofibromatosis 1-Related Osteoporosis Treated with Alendronate for 23 Months
This is the first prospective follow-up study to describe the effects of oral alendronate medication on neurofibromatosis 1 (NF1)-related osteoporosis. NF1 is a neurocutaneous skeletal syndrome associated with...
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Article
p38δ mitogen-activated protein kinase regulates the expression of tight junction protein ZO-1 in differentiating human epidermal keratinocytes
Increasing evidence has recognized tight junctions (TJs) as the lower epidermal inside-out diffusion barrier located in granular cell layers of the epidermis. However, little is known about the regulation of T...
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Living Reference Work Entry In depth
Protein Kinase C Family
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Living Reference Work Entry In depth
Neurofibromatosis-1
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Article
Neurofibromatosis 1-Related Osteopenia Often Progresses to Osteoporosis in 12 Years
The current study is based on our earlier investigation carried out in 1999, where bone mineral density (BMD) of 35 neurofibromatosis type 1 (NF1) patients was measured and osteoporosis was shown to be common ...
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Article
Oral soft tissue alterations in patients with neurofibromatosis
Our aim was to characterize the type and frequency of oral soft tissue alterations in neurofibromatosis. A total of 103 patients with neurofibromatosis 1 (NF1) and three patients with neurofibromatosis 2 (NF2)...
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Chapter
Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development
Multiple cutaneous neurofibromas are one of the two most classical characteristics of neurofibromatosis 1. Cutaneous neurofibromas are benign tumors which never undergo malignant transformation but create the ...
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Article
Neurofibromatosis 1 and dental caries
A total of 110 patients with neurofibromatosis 1 (NF1) were evaluated for their dental health. Appropriate cohorts from national Finnish databases were used as reference. The results showed that NF1 patients p...
