Cargando…

Genetic Elucidation of Human Hyperosmia to Isovaleric Acid

The genetic basis of odorant-specific variations in human olfactory thresholds, and in particular of enhanced odorant sensitivity (hyperosmia), remains largely unknown. Olfactory receptor (OR) segregating pseudogenes, displaying both functional and nonfunctional alleles in humans, are excellent cand...

Descripción completa

Detalles Bibliográficos
Autores principales:	Menashe, Idan, Abaffy, Tatjana, Hasin, Yehudit, Goshen, Sivan, Yahalom, Vered, Luetje, Charles W, Lancet, Doron
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2007
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2043052/ https://www.ncbi.nlm.nih.gov/pubmed/17973576 http://dx.doi.org/10.1371/journal.pbio.0050284

Ejemplares similares

A probabilistic classifier for olfactory receptor pseudogenes
por: Menashe, Idan, et al.
Publicado: (2006)

Bluetooth Hyperosmia: Chemosensory Variant of Delusional Somatic Symptom Disorder
por: Kalita, S., et al.
Publicado: (2023)

Discovery of Novel Ligands for Mouse Olfactory Receptor MOR42-3 Using an In Silico Screening Approach and In Vitro Validation
por: Bavan, Selvan, et al.
Publicado: (2014)

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria
por: Szymańska, Edyta, et al.
Publicado: (2020)

Aspects of Newborn Screening in Isovaleric Acidemia
por: Schlune, Andrea, et al.
Publicado: (2018)

Greater hippocampal gray matter volume in subjective hyperosmia: a voxel-based morphometry study
por: Han, Pengfei, et al.
Publicado: (2020)

Isovaleric acid ameliorates ovariectomy‐induced osteoporosis by inhibiting osteoclast differentiation
por: Cho, Kwang Min, et al.
Publicado: (2021)

Bacterial Volatile Isovaleric Acid Triggers Growth Alteration of Arabidopsis Seedlings
por: Murata, Jun, et al.
Publicado: (2022)

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
por: Grünert, Sarah C, et al.
Publicado: (2012)

Angelman syndrome and isovaleric acidemia: What is the link?
por: Lambrecht, Alix, et al.
Publicado: (2015)

Dietary practices in isovaleric acidemia: A European survey
por: Pinto, A., et al.
Publicado: (2017)

Case of isovaleric acidaemia for cataract surgery: Anaesthetic implications
por: Kelkar, Kalpana Vinod, et al.
Publicado: (2016)

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
por: Ding, Si, et al.
Publicado: (2022)

Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report
por: Kılıç, Mustafa, et al.
Publicado: (2014)

Atypical MR lenticular signal change in infantile isovaleric acidemia
por: Wani, Nisar A, et al.
Publicado: (2016)

Two New Cinnamyl Isovalerate Derivatives from Sabina gaussenii
por: Sun, Zhang-Hua, et al.
Publicado: (2016)

Isovaleric Acidemia: A Rare Case of an Inborn Error of Metabolism
por: Khan, Adnan, et al.
Publicado: (2020)

Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia
por: Mantadakis, Elpis, et al.
Publicado: (2013)

Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia
por: Sezer, Taner, et al.
Publicado: (2016)

Neonatal isovaleric acidemia in China: A case report and review of literature
por: Wu, Fang, et al.
Publicado: (2021)

Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria
por: Zaunseder, Elaine, et al.
Publicado: (2023)

Bacteroides-derived isovaleric acid enhances mucosal immunity by facilitating intestinal IgA response in broilers
por: Wang, Xinkai, et al.
Publicado: (2023)

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
por: Sowińska-Seidler, Anna, et al.
Publicado: (2014)

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
por: Cho, Jin Min, et al.
Publicado: (2013)

Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
por: Tsai, Anne Chun-Hui, et al.
Publicado: (2022)

Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity
por: Waszak, Sebastian M., et al.
Publicado: (2010)

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany
por: Murko, Simona, et al.
Publicado: (2022)

Inhibition of microbial production of the malodorous substance isovaleric acid by 4,4ʹ dichloro 2‐hydroxydiphenyl ether (DCPP)
por: Mayer, Sonja, et al.
Publicado: (2021)

PGA: power calculator for case-control genetic association analyses
por: Menashe, Idan, et al.
Publicado: (2008)

A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
por: Sag, Elif, et al.
Publicado: (2017)

High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution
por: Hasin, Yehudit, et al.
Publicado: (2008)

Evaluation of the Anticancer Properties of Geranyl Isovalerate, an Active Ingredient of Argyreia nervosa Extract in Colorectal Cancer Cells
por: Rasool, Fayyaz, et al.
Publicado: (2021)

An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report
por: Miyamoto, Sho, et al.
Publicado: (2022)

Genetic Elucidation of Ultrasonography Fetal Anomalies in Children with Autism Spectrum Disorder
por: Regev, O., et al.
Publicado: (2023)

Prioritization of Copy Number Variation Loci Associated with Autism from AutDB–An Integrative Multi-Study Genetic Database
por: Menashe, Idan, et al.
Publicado: (2013)

Multi-omics approaches to disease
por: Hasin, Yehudit, et al.
Publicado: (2017)

Exploring the familial role of social responsiveness differences between savant and non-savant children with autism
por: Daniel, Edan, et al.
Publicado: (2020)

19-hydroxy Steroids in the Aromatase Reaction: Review on Expression and Potential Functions
por: Abaffy, Tatjana, et al.
Publicado: (2021)

Cell-type-specific neuroanatomy of cliques of autism-related genes in the mouse brain
por: Grange, Pascal, et al.
Publicado: (2015)

Risk Factors Before Dialysis Predominate as Mortality Predictors in Diabetic Maintenance Dialysis patients
por: Tsur, Noa, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_ncv4jp7h2pnovpk0n8uctg5rtu