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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome
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This Special Issue of Cells on “Insulin-Like Growth Factors in Development, Cancers and Aging” provides a collection of modern articles dealing with the role of insulin-like growth factors (IGF1) in cancer biology, aging and development. Featured articles explore basic and clinical aspects of the IGF1 system, including post-genomic analyses as well as novel approaches to target the IGF1 receptor (IGF1R) in oncology. The present Special Issue highlights some of the most important topics in the broad area of IGF research, including the role of IGF1 in aging and longevity, attempts to target the IGF1 axis in oncology, the role of IGF-binding proteins, structural aspects of IGF-II, etc. We trust that this assembly of articles will be of great help to students, basic researchers and practitioners.
IGF-I --- IGF-II --- insulin --- IGF-IR --- IRs --- tyrosine kinase receptor --- GPCRs --- hybrids --- phosphorylation --- G-proteins --- β-arrestins --- functional RTK/GPCR hybrid --- nuclear translocation --- IGF-I receptor --- signaling --- targeted therapeutics --- IGF-Trap --- IGF system --- IGFBP-3 --- IGFBP-3R --- TMEM219 --- anti-tumor --- anti-metastatic --- agonists --- mAb therapy --- IGF-1 --- IGFBP-1 --- older adults --- longevity --- health-span --- age-related disease --- cognitive impairment --- diabetes --- mitochondria --- growth hormone --- insulin-like growth factor-1 --- aging --- oxidative stress --- senescence --- longitudinal study --- IGFBP --- mouse models --- skeletal muscle --- MSCs --- myogenesis --- glucose regulated protein (GRP) 94 --- insulin-like growth factor --- obligate chaperone --- hypertrophy --- atrophy --- cachexia --- muscle regeneration --- autophagy --- IGF-1R --- insulin receptor --- IR-A --- structural studies --- receptor activation --- n/a
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Mesoporous materials are capturing great interest thanks to their exceptional surface area, uniform and tunable pore size, ease surface functionalization, thus enabling broad series of intervention in the field of nanomedicine. Since many years, these aspects foster a deep investigation on mesoporous nanoparticles, to design and fabricate biocompatible, smart and stimuli-responsive nanotools for controlled drug- or gene-delivery, theranostics applications, in particular for cancer therapy, and tissue engineering. This Book is thus dedicated to the most recent advances in the field, collecting research papers and reviews. It spans from the synthesis and characterization of the mesoporous material, especially those made of silica, silicon and bioactive glasses, to their functionalization with smart gate-keepers, reporter molecules or targeting ligands, up to their in-vitro applications in the nanomedicine field.
polyurethane --- injectable hydrogels --- ion/drug delivery --- mesoporous bioactive glasses --- tissue regeneration --- mesoporous silica --- therapeutic biomolecules --- proteins --- peptides --- nucleic acids --- glycans --- nanoporous silicon --- gold nanoparticles --- drug delivery --- cancer cells --- theranostics --- mesoporous silica nanoparticles --- core-shell --- surface functionalization --- cell targeting --- size-dependent delivery --- antitumoral microRNA (miRNA) --- confocal microscopy --- tumor targeting --- stimuli responsive --- multimodal decorations --- targeted and controlled cargo release --- cancer therapy and diagnosis --- alginate–poloxamer copolymer --- silk fibroin --- dual network hydrogel --- mesoporous bioactive glass --- insulin-like growth factor-1 --- electrostatic gating --- nanofluidic diffusion --- controlled drug release --- silicon membrane --- smart drug delivery --- three-dimensional porous scaffolds --- electron beam melting --- selective laser sintering --- stereolithography --- electrospinning --- two-photon polymerization --- osteogenesis --- antibiotics --- anti-inflammatory --- n/a --- alginate-poloxamer copolymer
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Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome
Choose an application
Mesoporous materials are capturing great interest thanks to their exceptional surface area, uniform and tunable pore size, ease surface functionalization, thus enabling broad series of intervention in the field of nanomedicine. Since many years, these aspects foster a deep investigation on mesoporous nanoparticles, to design and fabricate biocompatible, smart and stimuli-responsive nanotools for controlled drug- or gene-delivery, theranostics applications, in particular for cancer therapy, and tissue engineering. This Book is thus dedicated to the most recent advances in the field, collecting research papers and reviews. It spans from the synthesis and characterization of the mesoporous material, especially those made of silica, silicon and bioactive glasses, to their functionalization with smart gate-keepers, reporter molecules or targeting ligands, up to their in-vitro applications in the nanomedicine field.
Technology: general issues --- polyurethane --- injectable hydrogels --- ion/drug delivery --- mesoporous bioactive glasses --- tissue regeneration --- mesoporous silica --- therapeutic biomolecules --- proteins --- peptides --- nucleic acids --- glycans --- nanoporous silicon --- gold nanoparticles --- drug delivery --- cancer cells --- theranostics --- mesoporous silica nanoparticles --- core-shell --- surface functionalization --- cell targeting --- size-dependent delivery --- antitumoral microRNA (miRNA) --- confocal microscopy --- tumor targeting --- stimuli responsive --- multimodal decorations --- targeted and controlled cargo release --- cancer therapy and diagnosis --- alginate-poloxamer copolymer --- silk fibroin --- dual network hydrogel --- mesoporous bioactive glass --- insulin-like growth factor-1 --- electrostatic gating --- nanofluidic diffusion --- controlled drug release --- silicon membrane --- smart drug delivery --- three-dimensional porous scaffolds --- electron beam melting --- selective laser sintering --- stereolithography --- electrospinning --- two-photon polymerization --- osteogenesis --- antibiotics --- anti-inflammatory --- polyurethane --- injectable hydrogels --- ion/drug delivery --- mesoporous bioactive glasses --- tissue regeneration --- mesoporous silica --- therapeutic biomolecules --- proteins --- peptides --- nucleic acids --- glycans --- nanoporous silicon --- gold nanoparticles --- drug delivery --- cancer cells --- theranostics --- mesoporous silica nanoparticles --- core-shell --- surface functionalization --- cell targeting --- size-dependent delivery --- antitumoral microRNA (miRNA) --- confocal microscopy --- tumor targeting --- stimuli responsive --- multimodal decorations --- targeted and controlled cargo release --- cancer therapy and diagnosis --- alginate-poloxamer copolymer --- silk fibroin --- dual network hydrogel --- mesoporous bioactive glass --- insulin-like growth factor-1 --- electrostatic gating --- nanofluidic diffusion --- controlled drug release --- silicon membrane --- smart drug delivery --- three-dimensional porous scaffolds --- electron beam melting --- selective laser sintering --- stereolithography --- electrospinning --- two-photon polymerization --- osteogenesis --- antibiotics --- anti-inflammatory
Choose an application
Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader-Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader-Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV
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This Special Issue of Cells on “Insulin-Like Growth Factors in Development, Cancers and Aging” provides a collection of modern articles dealing with the role of insulin-like growth factors (IGF1) in cancer biology, aging and development. Featured articles explore basic and clinical aspects of the IGF1 system, including post-genomic analyses as well as novel approaches to target the IGF1 receptor (IGF1R) in oncology. The present Special Issue highlights some of the most important topics in the broad area of IGF research, including the role of IGF1 in aging and longevity, attempts to target the IGF1 axis in oncology, the role of IGF-binding proteins, structural aspects of IGF-II, etc. We trust that this assembly of articles will be of great help to students, basic researchers and practitioners.
Research & information: general --- Biology, life sciences --- IGF-I --- IGF-II --- insulin --- IGF-IR --- IRs --- tyrosine kinase receptor --- GPCRs --- hybrids --- phosphorylation --- G-proteins --- β-arrestins --- functional RTK/GPCR hybrid --- nuclear translocation --- IGF-I receptor --- signaling --- targeted therapeutics --- IGF-Trap --- IGF system --- IGFBP-3 --- IGFBP-3R --- TMEM219 --- anti-tumor --- anti-metastatic --- agonists --- mAb therapy --- IGF-1 --- IGFBP-1 --- older adults --- longevity --- health-span --- age-related disease --- cognitive impairment --- diabetes --- mitochondria --- growth hormone --- insulin-like growth factor-1 --- aging --- oxidative stress --- senescence --- longitudinal study --- IGFBP --- mouse models --- skeletal muscle --- MSCs --- myogenesis --- glucose regulated protein (GRP) 94 --- insulin-like growth factor --- obligate chaperone --- hypertrophy --- atrophy --- cachexia --- muscle regeneration --- autophagy --- IGF-1R --- insulin receptor --- IR-A --- structural studies --- receptor activation --- IGF-I --- IGF-II --- insulin --- IGF-IR --- IRs --- tyrosine kinase receptor --- GPCRs --- hybrids --- phosphorylation --- G-proteins --- β-arrestins --- functional RTK/GPCR hybrid --- nuclear translocation --- IGF-I receptor --- signaling --- targeted therapeutics --- IGF-Trap --- IGF system --- IGFBP-3 --- IGFBP-3R --- TMEM219 --- anti-tumor --- anti-metastatic --- agonists --- mAb therapy --- IGF-1 --- IGFBP-1 --- older adults --- longevity --- health-span --- age-related disease --- cognitive impairment --- diabetes --- mitochondria --- growth hormone --- insulin-like growth factor-1 --- aging --- oxidative stress --- senescence --- longitudinal study --- IGFBP --- mouse models --- skeletal muscle --- MSCs --- myogenesis --- glucose regulated protein (GRP) 94 --- insulin-like growth factor --- obligate chaperone --- hypertrophy --- atrophy --- cachexia --- muscle regeneration --- autophagy --- IGF-1R --- insulin receptor --- IR-A --- structural studies --- receptor activation
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Collagen is the main fibrous structural protein in the extracellular matrix and connective tissue of animals. It is a primary building block of bones, tendons, skin, hair, cartilage, and all joints in the body. It is also considered a "glue" that holds the body together. Collagen production begins to slow down, and cell structures start losing their strength as we become older. Collagen supplementation is a vital way to help our body revive itself and stay youthful. Recently, collagen-based biomedical materials have developed important and clinically effective materials that have become widely acceptable. However, collagen extraction from land animal sources is complex, time consuming, and expensive. Hence, marine sources have started to be researched and have been found to be the most convenient and safest sources for obtaining collagen. Another reason for favouring these sources is due to concerns over adverse inflammatory and immunologic responses and the prevalence of various diseases among land animals that can cause health complications.Marine sources also have plenty of advantages over land animal sources: (1) a high collagen content; (2) environmentally friendly; (3) the presence of biological contaminants and toxins is almost negligible; (4) a low inflammatory response; (5) greater absorption due to their low molecular weight; (6) less significant religious and ethical constraints; (7) minor regulatory and quality control problems; (8) metabolic compatibility, among others. This huge source of marine collagen is expected to make a great contribution to marine biotechnology products and medical applications.
Medicine --- Axinella cannabina --- Suberites carnosus --- sponges --- marine collagen --- hydrogel --- collagen rheology --- marine sponge GAG --- marine biomaterials --- Chondrosia reniformis --- bone grafting --- bone biocompatible materials --- bone regeneration --- Nibea japonica --- response surface methodology --- optimization --- characterization --- collagen --- spongin --- collagen-related proteins --- scaffolds --- biomaterials --- jellyfish collagen --- mineralized salmon collagen --- osteochondral tissue engineering --- biphasic scaffold --- osteochondral medium --- alginate --- medical device --- scaffold --- soft corals --- tissue regeneration --- Porifera --- tissue engineering --- membranes --- cartilaginous fish by-products --- chitosan --- composite films --- properties --- blue shark collagen --- osteogenic activity --- Runx2 --- differentiated mesenchymal stem cell --- osteoblast --- proliferation --- collagen peptide --- ornithine --- skin elasticity --- transepidermal water loss --- growth hormone --- insulin-like growth factor-1 --- marine-origin collagen --- codfish --- biophysical characterization --- biologic activity --- ASTM guidelines --- biomedical application --- skin collagen --- electrodialysis --- thermal stability --- Takifugu flavidus --- mariculture --- sponge --- fishfarm --- integrated multitrophic aquaculture --- hydroxyproline --- fibroblasts proliferation and differentiation --- wound healing --- fish discards --- fish by-products --- cosmetic applications --- experimental designs --- chitin --- corals --- extracellular matrix --- marine invertebrates --- marine proteins --- Nile tilapia collagen --- n/a
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Mesoporous materials are capturing great interest thanks to their exceptional surface area, uniform and tunable pore size, ease surface functionalization, thus enabling broad series of intervention in the field of nanomedicine. Since many years, these aspects foster a deep investigation on mesoporous nanoparticles, to design and fabricate biocompatible, smart and stimuli-responsive nanotools for controlled drug- or gene-delivery, theranostics applications, in particular for cancer therapy, and tissue engineering. This Book is thus dedicated to the most recent advances in the field, collecting research papers and reviews. It spans from the synthesis and characterization of the mesoporous material, especially those made of silica, silicon and bioactive glasses, to their functionalization with smart gate-keepers, reporter molecules or targeting ligands, up to their in-vitro applications in the nanomedicine field.
Technology: general issues --- polyurethane --- injectable hydrogels --- ion/drug delivery --- mesoporous bioactive glasses --- tissue regeneration --- mesoporous silica --- therapeutic biomolecules --- proteins --- peptides --- nucleic acids --- glycans --- nanoporous silicon --- gold nanoparticles --- drug delivery --- cancer cells --- theranostics --- mesoporous silica nanoparticles --- core-shell --- surface functionalization --- cell targeting --- size-dependent delivery --- antitumoral microRNA (miRNA) --- confocal microscopy --- tumor targeting --- stimuli responsive --- multimodal decorations --- targeted and controlled cargo release --- cancer therapy and diagnosis --- alginate–poloxamer copolymer --- silk fibroin --- dual network hydrogel --- mesoporous bioactive glass --- insulin-like growth factor-1 --- electrostatic gating --- nanofluidic diffusion --- controlled drug release --- silicon membrane --- smart drug delivery --- three-dimensional porous scaffolds --- electron beam melting --- selective laser sintering --- stereolithography --- electrospinning --- two-photon polymerization --- osteogenesis --- antibiotics --- anti-inflammatory --- n/a --- alginate-poloxamer copolymer
Choose an application
This Special Issue of Cells on “Insulin-Like Growth Factors in Development, Cancers and Aging” provides a collection of modern articles dealing with the role of insulin-like growth factors (IGF1) in cancer biology, aging and development. Featured articles explore basic and clinical aspects of the IGF1 system, including post-genomic analyses as well as novel approaches to target the IGF1 receptor (IGF1R) in oncology. The present Special Issue highlights some of the most important topics in the broad area of IGF research, including the role of IGF1 in aging and longevity, attempts to target the IGF1 axis in oncology, the role of IGF-binding proteins, structural aspects of IGF-II, etc. We trust that this assembly of articles will be of great help to students, basic researchers and practitioners.
Research & information: general --- Biology, life sciences --- IGF-I --- IGF-II --- insulin --- IGF-IR --- IRs --- tyrosine kinase receptor --- GPCRs --- hybrids --- phosphorylation --- G-proteins --- β-arrestins --- functional RTK/GPCR hybrid --- nuclear translocation --- IGF-I receptor --- signaling --- targeted therapeutics --- IGF-Trap --- IGF system --- IGFBP-3 --- IGFBP-3R --- TMEM219 --- anti-tumor --- anti-metastatic --- agonists --- mAb therapy --- IGF-1 --- IGFBP-1 --- older adults --- longevity --- health-span --- age-related disease --- cognitive impairment --- diabetes --- mitochondria --- growth hormone --- insulin-like growth factor-1 --- aging --- oxidative stress --- senescence --- longitudinal study --- IGFBP --- mouse models --- skeletal muscle --- MSCs --- myogenesis --- glucose regulated protein (GRP) 94 --- insulin-like growth factor --- obligate chaperone --- hypertrophy --- atrophy --- cachexia --- muscle regeneration --- autophagy --- IGF-1R --- insulin receptor --- IR-A --- structural studies --- receptor activation --- n/a
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