A 46,XX karyotype in men with infertility: Two new cases and review of the literature
Journal of Human Reproductive Sciences, 2022 46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients. An extensive
Elisavet Kouvidi +11 more
doaj +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
X chromosome sites autonomously recruit the dosage compensation complex in Drosophila males.
PLoS Biology, 2004 It has been proposed that dosage compensation in Drosophila males occurs by binding of two core proteins, MSL-1 and MSL-2, to a set of 35-40 X chromosome "entry sites" that serve to nucleate mature complexes, termed compensasomes, which then spread to ...
Delphine Fagegaltier, Bruce S Baker
doaj +1 more source
De novo origin of VCY2 from autosome to Y-transposed amplicon. [PDF]
PLoS ONE, 2015 The formation of new genes is a primary driving force of evolution in all organisms. The de novo evolution of new genes from non-protein-coding genomic regions is emerging as an important additional mechanism for novel gene creation.
Peng-Rong Cao +6 more
doaj +1 more source
Molecular cytogenetics (FISH, GISH) of Coccinia grandis: A ca. 3 myr-old species of Cucurbitaceae with the largest Y/autosome divergence in flowering plants [PDF]
, 2013 The independent evolution of heteromorphic sex chromosomes in 19 species from 4 families of flowering plants permits studying X/Y divergence after the initial recombination suppression.
A. Sousa +67 more
core +2 more sources
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
RNA stability controlled by m6A methylation contributes to X-to-autosome dosage compensation in mammals [PDF]
, 2023 Cornelia Rücklé +16 more
openalex +1 more source
Autosomal dominant polycystic disease # [PDF]
Hepatology, 2009 n ...
Pedrolli, Carlo, Cereda, Emanuele
openaire +3 more sources
Co-up-regulation of three P450 genes in response to permethrin exposure in permethrin resistant house flies, Musca domestica [PDF]
, 2008 BACKGROUND: Insects may use various biochemical pathways to enable them to tolerate the lethal action of insecticides. For example, increased cytochrome P450 detoxification is known to play an important role in many insect species.
Fang Zhu, Lee Zhang, Nannan Liu, Ting Li
core +3 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu +5 more
wiley +1 more source