Results 1 to 10 of about 83,610 (79)

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Molecular Cytogenetics, 2022
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions ...
Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson   +8 more
doaj   +1 more source

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics

Frontiers in Synaptic Neuroscience, 2020
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in social-communication impairments, as well as restricted and repetitive behaviors. Moreover, ASD is more prevalent in males, with a male to female ratio of 4 to 1.
Thien A. Nguyen, Thien A. Nguyen, Alexander W. Lehr, Katherine W. Roche   +3 more
doaj   +1 more source

Deep ancestry of mammalian X chromosome revealed by comparison with the basal tetrapod Xenopus tropicalis

BMC Genomics, 2012
Background The X and Y sex chromosomes are conspicuous features of placental mammal genomes. Mammalian sex chromosomes arose from an ordinary pair of autosomes after the proto-Y acquired a male-determining gene and degenerated due to suppression of X-Y ...
Mácha Jaroslav, Teichmanová Radka, Sater Amy K, Wells Dan E, Tlapáková Tereza, Zimmerman Lyle B, Krylov Vladimír   +6 more
doaj   +1 more source

Frequent gene conversion events between the X and Y homologous chromosomal regions in primates

BMC Evolutionary Biology, 2010
Background Mammalian sex-chromosomes originated from a pair of autosomes. A step-wise cessation of recombination is necessary for the proper maintenance of sex-determination and, consequently, generates a four strata structure on the X chromosome.
Hirai Hirohisa, Satta Yoko, Iwase Mineyo, Hirai Yuriko, Takahata Naoyuki   +4 more
doaj   +1 more source

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

Data in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan, Akbar Hedayatizadeh-Omran, Mahdyieh Naghavi Alhosseini-Abyazani, Omolbanin Amjadi, Alireza Rafiei, Mohsen Tehrani, Reza Alizadeh-Navaei   +6 more
doaj   +1 more source

Identification of QTLs associated with cadmium concentration in rice grains

Journal of Integrative Agriculture, 2018
Cadmium (Cd) contamination in rice has been a hot topic of research because of its potential risk to human health. In this study, a double haploid (DH) population derived from Zhongjiazao 17 (YK17) (an early-season indica cultivar)×D50 (a tropical ...
Da-wei HU, Zhong-hua SHENG, Qian-long LI, Wei CHEN, Xiang-jin WEI, Li-hong XIE, Gui-ai JIAO, Gao-neng SHAO, Jian-long WANG, Shao-qing TANG, Pei-song HU   +10 more
doaj   +1 more source

A comparative of G-banded chromosome of Assam Macaque (Macaca assamensis) and relationship to human (Homo sapiens) [PDF]

Songklanakarin Journal of Science and Technology (SJST), 2006
This research was the first to report a comparative analysis of G-banded chromosome of Assam macaque, Macaca assamensis (Primate, Cercopithecidae) and relationship to human, Homo sapiens (Primate, Hominidae).
Bunjongrat, R., Khunsook, S., Kaensa, W., Tanomtong, A.   +3 more
doaj  

New insights into mammalian sex chromosome structure and evolution using high-quality sequences from bovine X and Y chromosomes

BMC Genomics, 2019
Background Mammalian X chromosomes are mainly euchromatic with a similar size and structure among species whereas Y chromosomes are smaller, have undergone substantial evolutionary changes and accumulated male specific genes and genes involved in sex ...
Ruijie Liu, Wai Yee Low, Rick Tearle, Sergey Koren, Jay Ghurye, Arang Rhie, Adam M. Phillippy, Benjamin D. Rosen, Derek M. Bickhart, Timothy P. L. Smith, Stefan Hiendleder, John L. Williams   +11 more
doaj   +1 more source

Cytogenetic analysis on Herichthys minckleyi (Perciformes, Cichlidae) from Cuatrociénegas, Coahuila, México

The European Zoological Journal
The purpose of this work was to use standard Giemsa staining and several chromosome-banding procedures to define the karyotype of Herichthys minckleyi (Perciformes, Cichlidae) from Cuatrociénegas, Coahuila, Mexico.
R. E. Mendoza-Alfaro, E. I. Cortés-Gutiérrez, M. I. Dávila-Rodríguez, C. García-Vielma, D. Montiel-Condado   +4 more
doaj   +1 more source

MGA: a tool for haplotype-mixed assembly of long and accurate reads. [PDF]

Genome Biol
Zhang Z, Fedarko MW, Bankevich A, Pevzner PA.   +3 more
europepmc   +1 more source