Results 111 to 120 of about 76,927 (296)

Repetitive DNAs and shrink genomes: A chromosomal analysis in nine Columbidae species (Aves, Columbiformes)

Genetics and Molecular Biology, 2018
An extensive karyotype variation is found among species belonging to the Columbidae family of birds (Columbiformes), both in diploid number and chromosomal morphology.
Rafael Kretschmer, Thays Duarte de Oliveira, Ivanete de Oliveira Furo, Fabio Augusto Oliveira Silva, Ricardo José Gunski, Analía del Valle Garnero, Marcelo de Bello Cioffi, Edivaldo Herculano Corrêa de Oliveira, Thales Renato Ochotorena de Freitas   +8 more
doaj   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

A short history of chromosome rearrangements and gene fusions in cancer [PDF]

, 2015
The molecular characterization of recurrent chromosome aberrations in the early 1980s laid the foundation for gene fusion detection in cancer. This approach remained the unrivalled method to identify fusion genes for a quarter of a century and led to the
Mitelman, Felix,, Lund University.
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project [PDF]

, 2008
Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation.
Kim, Hyung-Goo, Farra, Chantal G., Korf, Bruce R, Moore, Steven D.P., Lu, Weining, Shendure, Jay, Ferguson, Heather L., MacDonald, Marcy E, MacDonald, Marcy E., Peters, Roxanna E., Alkuraya, Fowzan S, Herrick, Steven R, Gusella, James F, Moore, Steven D P, Morton, Cynthia C., Maas, Richard L., Peters, Roxanna E, Eisenman, Robert, Harris, David J, Quade, Bradley J, Kishikawa, Shotaro, Gusella, James F., Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Alkuraya, Fowzan S., Saadi, Irfan, Donovan, Diana J, Leach, Natalia T, Herrick, Steven R., Leach, Natalia T., Bosco, Amy F., Brown, Kerry K, Bruns, Gail A.P., Ferguson, Heather L, Lally, Eric, Bosco, Amy F, Shen, Yiping, Harris, David J., Lewis, Janine, Higgins, Anne W., Williamson, Robin E., Morton, Cynthia C; id_orcid, Brown, Kerry K, PhD, Higgins, Anne W, Morton, Cynthia C, Lemyre, Emma, Williamson, Robin E, Maas, Richard L, Kelly, Chantal, Ligon, Azra H., Farra, Chantal G, Korf, Bruce R., Brown, Kerry K., Quade, Bradley J., Ligon, Azra H, Donovan, Diana J., Bruns, Gail A P, Fan, Yanli   +57 more
core   +1 more source

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

Human Genomics
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss.
V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli   +19 more
doaj   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment

The Anatomical Record, EarlyView.
Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga, Verônica Oliveira‐Bahia, Maria Auxiliadora Ferreira, José Ribamar Felipe Marques, Diva Araújo Guimarães   +4 more
wiley   +1 more source

In silico reconstruction of chromosomal rearrangements and an avian ancestral karyotype [PDF]

, 2014
The recent availability of whole genome assemblies for multiple bird species has changed the way we can detect and describe patterns of avian genome evolution.
O'Connor, Rebecca, Farré-Belmonte, Marta, Larkin, Denis M, Fowler, Katie E, Romanov, Michael N, Lithgow, Pamela E, Griffin, Darren K.   +6 more
core   +1 more source

Novel gene rearrangements in transformed breast cells identified by high-resolution breakpoint analysis of chromosomal aberrations [PDF]

, 2010
Chromosomal copy number alterations and chromosomal rearrangements are frequent mutations in human cancer. Unlike copy number alterations, little is known about the role and occurrence of chromosomal rearrangements in breast cancer.
O'Brien, Patricia C. M., Gray, Lindsey, Jackl, Gerhard, Ferguson-Smith, Malcolm, Hieber, Ludwig, Walch, Axel, Brown, Andreas, Briscoe, Caecilia, Zitzelsberger, Horst, Unger, Kristian, O'Brien, Patricia C M, Rodriguez, Elke, Briscoe, Cäcilia, Gray, Lindsey Jane, Wienberg, Johannes, Tallini, Giovanni, Riches, Andrew, Walch, Axel Karl, Knijnenburg, Jeroen, Riches, Andrew Clive   +19 more
core   +1 more source