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Embryo Implantation and Placental Development
| Embryo Implantation and Placental Development |
| Autore | Campagnolo Luisa |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (342 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences |
| Soggetto non controllato |
fetuin-A
GDM cell growth centrosome primary cilium autophagy implantation endometrium blastocyst embryo chorionic gonadotropin progesterone Notch cytokines placenta amino acid transporter mammalian target of rapamycin gestational diabetes trophectoderm cell proliferation let-7 miRNAs gene regulation fractalkine trophoblast bilaminar co-culture miRNA trophoblast cells ARID3B complex decidualization adverse pregnancy outcome preconception preimplantation genetic screening in-vitro fertilization biopsy euploid embryo pregnancy mosaicism development flow culture KIT receptor KITD816V placental development premature differentiation trophoblast stem cell trophoblast giant cell spongiotrophoblast invasion embryonic growth retardation Jag1 Dll4 endothelial cells decidua angiogenesis capillaries spiral arteries Stabilin-1 Stabilin-2 double knockout hemorrhage RNA-seq ChIP-seq enhancers transcription factors PLAGL1 tube formation blood vessel development PlGF Flt-1/VEGFR1 immune modulation human placenta lopinavir mitochondria Mfn2 UPR IRE1α placental dysfunction assisted reproduction techniques infertility preeclampsia intrauterine growth restriction trophoblast invasion sFLT-1 EGFL7 placenta-derived mesenchymal stromal cells mouse model |
| ISBN | 3-0365-5853-5 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910639986303321 |
Campagnolo Luisa
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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EmbryoGenetics
| EmbryoGenetics |
| Autore | Simón Carlos |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (176 p.) |
| Soggetto topico | Research & information: general |
| Soggetto non controllato |
extracellular vesicles
exosomes microvesicles apoptotic bodies DNA preimplantation embryos murine blastocysts embryo uterus window of implantation PGT-A PGT-SR mosaicism embryo genetics chromosomal abnormality preimplantation genetic testing PGT-P polygenic risk scoring genomic index relative risk reduction combined preimplantation genetic testing Preimplantation genetic testing for monogenic disorders (PGT-M) Preimplantation genetic testing for aneuploidy assessment (PGT-A) Autosomal dominant polycystic kidney disease (ADPKD) male infertility advanced maternal age aneuploidy NGS segmental translocations monogenic disease multiplex PCR SNP array genome editing genetic diseases embryos vitrification ovarian response female age genetic testing reproductive health next-generation sequencing whole exome sequencing perinatal care infertility aneuploidies polygenic disease blastocyst endometrium implantation |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557725303321 |
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Simón Carlos
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Genetic Testing for Rare Diseases
| Genetic Testing for Rare Diseases |
| Autore | Millán José |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (144 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
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 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
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Millán José
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019
| Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019 |
| Autore | Butler Merlin G |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (256 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Genetics (non-medical) |
| Soggetto non controllato |
autism spectrum disorders (ASD)
cancer overlapping genes and gene profiling super-pathways phenotypes and diseases molecular functions and processes 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome imprinting parent-of-origin effects phenotype-genotype correlation autism developmental delays motor delays microbiome gut ProSAP2 Phelan McDermid Syndrome gut–brain interaction leaky gut IL-6 SHANK collapsin response mediator protein 4 autism spectrum disorder neurodevelopmental disorder whole-exome sequencing animal model sex different phenotypes 15q11.2 BP1–BP2 microdeletion (Burnside–Butler syndrome) NIPA1 NIPA2 CYFIP1 TUBGCP5 genes Prader–Willi and Angelman syndromes magnesium transporters and supplementation potential treatment options intellectual disability AMPA receptors NMDA receptors guanine nucleotide exchange factor synaptic plasticity Autism spectrum disorder ASD Obesity Overweight Body mass index BMI autism candidate genes synaptotagmin-like protein 4 (SYTL4) transmembrane protein 187 (TMEM187) SYTL4-protein structure STRING-protein-protein interaction expression profile microRNA- interactions autism spectrum disorders biological networks genomics multi-omics network diffusion data integration genetics quantitative traits stratification by trait severity heterogeneity reduction case-control association analysis fragile X syndrome RNA toxicity DNA methylation mosaicism pediatrics MS-QMA AmplideX cytokine monocyte β-glucan T cell cytokine trained immunity maternal immune activation epigenetics mice postnatal VPA injection SAM gene expression nanostring |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566483203321 |
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Butler Merlin G
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Towards Mechanism-based Treatments for Fragile X Syndrome
| Towards Mechanism-based Treatments for Fragile X Syndrome |
| Autore | Kumari Daman |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (250 p.) |
| Soggetto non controllato |
lymphoblast
pluripotent stem cells FMR1 Gene editing X chromosome Fmr1 epigenetic gene silencing FMR1 gene Fragile X syndrome 1 repeat instability characteristics that have the greatest impact DNA instability working memory language development mosaicism CRISPR 3 clinical trials autism spectrum disorders Fmr1 KO mouse automated vocal analysis base excision repair (BER) inhibitory control cerebral spinal fluid iPSC drug development targeted treatments molecular biomarkers viral vector avoidance biomarker set-shifting early identification expansion anxiety planning voice of the person mismatch repair (MMR) gene reactivation double-strand break repair (DSBR) newborn screening intellectual disability processing speed voice of the patient fragile X syndrome adeno-associated virus neurodevelopmental disorders histone methylation Non-homologous end-joining (NHEJ) ASD Fxr2 Fragile X-associated Tremor/Ataxia Syndrome 2 Trinucleotide Repeat 4 CGG Repeat Expansion Disease DNA methylation contraction fragile X mental retardation protein RNA:DNA hybrid behavior developmental disorders cognition females FMRP Fragile X Syndrome unstable repeat diseases protein synthesis brain cognitive flexibility treatment development fibroblast PRC2 transcription coupled repair (TCR) best practices attention Fragile X executive function |
| ISBN | 3-03921-506-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367759103321 |
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Kumari Daman
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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