Sex and neo-sex chromosome evolution in beetles. by Ryan Bracewell, Anita Tran, Kamalakar Chatla, Doris Bachtrog

“…While the ancestral X chromosome is maintained across beetles, we find independent additions of autosomes to the ancestral sex chromosomes. …”
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DOSAGE COMPENSATION: REGULATION OF SEX CHROMOSOME GENE EXPRESSION by E. V. Dementyeva

“…It has also been found that not only equal levels of X-linked gene expression between sexes but also the transcription balance between the X chromosome and autosomes is important. Detailed examination of dosage compensation mechanisms demonstrates that X-linked genes are differently involved in the dosage compensation system. …”
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Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

“…In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.…”
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Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype by Sigin George, Vikas Karamchand Dagar, N. Nagaraja, Barun Kumar Chakrabarty

“…Turner syndrome (TS) is the most frequently detected chromosomal abnormality in females caused by the partial or complete absence of second X chromosome. Due to varied phenotypical presentation, the diagnosis of TS can create a spectrum of clinical concerns related to morbidity and mortality. …”
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Androgen receptor dynamics in prostate cancer: from disease progression to treatment resistance by Caihong Li, Dongkai Cheng, Peng Li

“…The androgen receptor (AR) on the X chromosome is a central driver in this process, activating genes that govern proliferation and survival. …”
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Early Renal Involvement in a Girl with Classic Fabry Disease by Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche

“…Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). …”
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Biochemical and Clinical Features of Insulinoma in a Patient with Turner Syndrome by Darius A. Schneider, M. Zare, F. Behnia, M. Matesan, T. Tylee

“…., mosaic or nonmosaic states with only one normal X chromosome in females, is characterized by a wide spectrum of somatic, hormonal, and metabolic features. …”
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Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia by Jennifer L. Flint, Jill D. Jacobson

“…Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. …”
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Molecular mechanisms of autism as a form of synaptic dysfunction by E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko

“…Deregulation of the local translation in dendrites is connected with the following monogenic autism spectrum disorders: neurofibromatosis type 1, Noonan syndrome, Costello syndrome, Cowden syndrome, tuberous sclerosis, fragile X chromosome, syndrome, and Rett syndrome. The review considers the most important mutations leading to monogenic autism, as well as the possibility of a mechanism-based treatment of certain disorders of the autism spectrum.…”
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Circular RNAs as a novel class of potential therapeutic and diagnostic biomarkers in reproductive biology/diseases by Wanyu Song, Xiuli Chen, Haiying Wu, Neda Rahimian

“…CircRNAs are integral pieces in multiple cellular functions, including moving substances within the nucleus, silencing one X chromosome, cell death, the ability of stem cells to differentiate into different cell types, and the process of gene expression inherited from parental genes. …”
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Elevated Aminotransferase Activity as an Indication of Muscular Dystrophy: Case Reports and Review of the Literature by S Zamora, C Adams, JD Butzner, H Machida, Rb Scott

“…All five were later diagnosed with X chromosome-linked muscular dystrophy. The serum level of ALT, generally considered to be specific for hepatocellular injury, was increased two to 25 times above normal in all the reported cases. …”
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Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder by Syouichi Katayama, Noriyuki Sueyoshi, Tetsuya Inazu, Isamu Kameshita

“…Cyclin-dependent kinase-like 5 (CDKL5, also known as STK9) is a serine/threonine protein kinase originally identified in 1998 during a transcriptional mapping project of the human X chromosome. Thereafter, a mutation in CDKL5 was reported in individuals with the atypical Rett syndrome, a neurodevelopmental disorder, suggesting that CDKL5 plays an important regulatory role in neuronal function. …”
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Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case by Laura Regelskytė, Rūta Praninskienė

“…It is inherited through the X chromosome in a recessive manner. Due to the ABCD1 gene mutation, there is a disorder of peroxisomes, thus very long-chain fatty acids are not degraded properly. …”
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CYTOGENETIC STUDY OF THE HAMDANI SHEEP BREED OF THE IRAQI KURDISTAN REGION by D. M. Khdhr, K. J. Karim

“…Both X chromosomes in female sheep were acrocentric and had the same relative length of 3.46µm. …”
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Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing by Sonali Bhakta, Hiroko Kodama, Masakazu Mimaki, Toshifumi Tsukahara

“…Menkes disease is a recessive X-chromosome-linked hereditary syndrome in humans, caused by defective copper metabolism due to mutations in the <i>ATP7A</i> gene, which encodes a copper transport protein. …”
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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes by Jesper Just, Lukas Ochsner Reynaud Ridder, Emma Bruun Johannsen, Jens Magnus Bernth Jensen, Mikkel Steen Petersen, Helene Viborg Christensen, Kenneth Kjærgaard, Jacob Redder, Simon Chang, Kirstine Stochholm, Anne Skakkebæk, Claus Højbjerg Gravholt

“…All TS individuals lacked the X chromosome p-arm, and XIST expression from the q-arm did not affect the autosomal transcriptome or methylome, highlighting the critical role of the missing p-arm with its pseudoautosomal region 1. …”
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Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome by Tao Yang, Huan Zhao, Changbo Lu, Xiaoyu Li, Yingli Xie, Hao Fu, Hui Xu

“…Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by expansion of the CGG trinucleotide repeat affecting the fmr1 gene on X chromosome, resulting in silence of the fmr1 gene and failed expression of FMRP. …”
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Shedding light on DNA methylation and its clinical implications: the impact of long-read-based nanopore technology by Alexandra Chera, Mircea Stancu-Cretu, Nicolae Radu Zabet, Octavian Bucur

“…Abstract DNA methylation is an essential epigenetic mechanism for regulation of gene expression, through which many physiological (X-chromosome inactivation, genetic imprinting, chromatin structure and miRNA regulation, genome defense, silencing of transposable elements) and pathological processes (cancer and repetitive sequences-associated diseases) are regulated. …”
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Sex Differences Associated with Primary Biliary Cirrhosis by Daniel S. Smyk, Eirini I. Rigopoulou, Albert Pares, Charalambos Billinis, Andrew K. Burroughs, Luigi Muratori, Pietro Invernizzi, Dimitrios P. Bogdanos

“…There does not appear to be any histological, serological, or biochemical differences between male and female PBC, although the symptomatology may differ, with males being at higher risk of life-threatening complications such as gastrointestinal bleeding and hepatoma. Studies on X chromosome and sex hormones are of interest when studying the low preponderance of PBC in males; however, these studies are far from conclusive. …”
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A noncanonical role of roX RNAs in autosomal epigenetic repression by Jianjian Li, Shuyang Xu, Zicong Liu, Liuyi Yang, Zhe Ming, Rui Zhang, Wenjuan Zhao, Huipai Peng, Jeffrey J. Quinn, Manyin Wu, Yushan Geng, Yuying Zhang, Jiazhi He, Minghai Chen, Nan Li, Ning-Yi Shao, Qing Ma

“…We observed that roX RNAs colocalize with MSL proteins on the X chromosome and PRC components on autosomes. Intriguingly, loss of roX function reduces X-chromosomal H4K16ac levels and autosomal H3K27me3 levels. …”
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