Results 71 to 80 of about 3,137,340 (284)

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

, 2014
Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 ...
Mackay, Deborah J.G., Poole, Rebecca L., Prescott, Trine, Rezwan, Faisal I., Temple, I. Karen, Walker, Joanna M.   +5 more
core   +1 more source

Olfaction scaffolds the developing human from neonate to adolescent and beyond [PDF]

, 2020
The impact of the olfactory sense is regularly apparent across development. The foetus is bathed in amniotic fluid that conveys the mother’s chemical ecology.
Durand, Karine, Loos, Hélène, Saxton, Tamsin, Schaal, Benoist, Soussignan, Robert   +4 more
core   +3 more sources

NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing

Annals of Human Genetics
Long‐read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5‐methylcytosine, nanopore is a promising
C. H. Bækgaard, E. B. Lester, Steffen Møller-Larsen, Mathilde F Lauridsen, Martin Jakob Larsen   +4 more
semanticscholar   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

The impact of assisted reproductive technologies on genomic imprinting and imprinting disorders [PDF]

Current Opinion in Obstetrics & Gynecology, 2014
Genomic imprinting refers to preferential allele-specific gene expression. DNA methylation-based molecular mechanisms regulate establishment and maintenance of parental imprints during early embryo development and gametogenesis. Because of the coincident timing, a potential association between assisted reproductive technology (ART) procedures and ...
Asli, Uyar, Emre, Seli
openaire   +2 more sources

CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review

Cells, 2020
Imprinting diseases (IDs) are rare congenital disorders caused by aberrant dosages of imprinted genes. Rare IDs are comprised by a group of several distinct disorders that share a great deal of homology in terms of genetic etiologies and symptoms ...
Linn Amanda Syding, Petr Nickl, Petr Kasparek, Radislav Sedlacek   +3 more
doaj   +1 more source

Epigenetic inheritance. Concepts, mechanisms and perspectives [PDF]

, 2018
Parents' stressful experiences can influence an offspring's vulnerability to many pathological conditions, including psychopathologies, and their effects may even endure for several generations.
Lacal, Irene, Ventura, Rossella
core   +1 more source

Clinical spectrum and management of imprinting disorders

Medizinische Genetik, 2020
Imprinting disorders are exceptional within the group of monogenic syndromes. They are associated with molecular changes affecting imprinted regions and usually do not follow the rules of Mendelian inheritance.
M. Elbracht, G. Binder, O. Hiort, C. Kiewert, C. Kratz, T. Eggermann   +5 more
semanticscholar   +1 more source

Translational control of auditory imprinting and structural plasticity by eIF2α

eLife, 2016
The formation of imprinted memories during a critical period is crucial for vital behaviors, including filial attachment. Yet, little is known about the underlying molecular mechanisms.
Gervasio Batista, Jennifer Leigh Johnson, Elena Dominguez, Mauro Costa-Mattioli, Jose L Pena   +4 more
doaj   +1 more source

Human imprinting disorders: Principles, practice, problems and progress.

European Journal of Medical Genetics, 2017
Epigenetic regulation orchestrates gene expression with exquisite precision, over a huge dynamic range and across developmental space and time, permitting genomically-homogeneous humans to develop and adapt to their surroundings. Every generation, these epigenetic marks are re-set twice: in the germline, to enable differentiation of sperm and eggs, and
D. Mackay, I. Temple
semanticscholar   +6 more sources