Results 71 to 80 of about 237,429 (310)

A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders. [PDF]

PLoS ONE, 2010
For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture.
Anthony J Deo, Ramiro Costa, Lynn E DeLisi, Rob DeSalle, Fatemeh Haghighi   +4 more
doaj   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment [PDF]

, 2014
Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child ...
Newbury, Dianne F, Bolton, Patrick F, A. O'Hare, Paracchini, S., Fisher, S E, Hennessy, E. R., Monaco, Anthony P, Simpson, N., Fisher, S. E., S. E. Fisher, Simpson, N H, Ring, S M, O'Hare, A., N. H. Simpson, Newbury, D., S. Paracchini, Bolton, P F, Ring, SM, Nudel, R, Smith, G D, Smith, G., Monaco, AP, P. F. Bolton, Simpson, N. H., Smith, George Davey, O'Hare, Anne, O'Hare, A, ?, ?, Hennessy, ER, E. R. Hennessy, G. Baird, Conti-Ramsden, G., Nudel, Ron, Francks, Clyde, O’Hare, A., S. M. Ring, Monaco, A., Paracchini, Silvia, Simpson, Nuala H, Nudel, R., Bolton, PF, Baird, Gillian, D. F. Newbury, Newbury, D F, Bolton, P. F., Hennessy, E., C. Francks, Newbury, D. F., Baird, G., The SLli consortium, Smith, G. Davey, G. Conti‐Ramsden, SLI Consortium, Fisher, Simon E, Cohen, Wendy, Ring, Susan M, Davey Smith, G, R. Nudel, Baird, G, Fisher, S., Bolton, P., The SLI Consortium, Fisher, SE, Conti-Ramsden, G, Simpson, NH, Conti-Ramsden, Gina, Francks, C., Monaco, A. P., Hennessy, Elizabeth R, A. P. Monaco, Paracchini, S, Francks, C, Monaco, A P, The SLI Consortium (includes Wendy Cohen), Ring, S. M., Newbury, DF, Ring, S., G. Davey Smith, Hennessy, E R   +78 more
core   +1 more source

Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes, Nora María Orive Rodríguez, Glenys Katiuska Silva González, Lisset Romero Portelles, Ivette Díaz Plá   +4 more
doaj  

Pre-implantation Genetic Testing for Aneuploidy (PGT-A)

Thai Journal of Obstetrics and Gynaecology, 2020
Preimplantation genetic diagnosis (PGD) or embryo selection was first performed in 1989 using PCR for gender selection to avoid X-linked recessive disorder. However, there was a misdiagnosis due to allele drop out (ADO). Therefore, fluorescent in situ
Wirawit Piyamongkol
doaj   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study [PDF]

, 2008
The finding of increased risks of specific cancers in individuals with constitutional deletions of chromosomes 11p and 13q led to the discovery of cancer predisposition genes at these locations, but there have been no systematic studies of cancer risks ...
Schoemaker, MJ, Jacobs, P.A., Swerdlow, AJ, P A Jacobs, Schoemaker, M.J., Schoemaker, M J, Wright, A F, A F Wright, Wright, AF, A J Swerdlow, Higgins, C.D., Wright, A.F., Swerdlow, A.J., Jacobs, PA, Jacobs, P A, Swerdlow, A J, C D Higgins, Higgins, C D, Higgins, CD, M J Schoemaker   +19 more
core   +1 more source

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

Case Reports in Endocrinology, 2013
Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD.
Lei Zhang, Linda D. Cooley, Sonal R. Chandratre, Atif Ahmed, Jill D. Jacobson   +4 more
doaj   +1 more source

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

Neurobiology of Disease, 2010
Human chromosome 15q11–q13 is subject to regulation by genomic imprinting, an epigenetic process by which genes are expressed in a parent-of-origin specific manner.
Stormy J. Chamberlain, Marc Lalande
doaj   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source