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https://www.readbyqxmd.com/read/29774577/genome-wide-association-analysis-reveals-novel-loci-for-hypoxia-adaptability-in-tibetan-chicken
#1
S Y Jiang, H Y Xu, Z N Shen, C J Zhao, C Wu
The Tibetan chicken (TBC), an indigenous chicken breed of the Tibetan Plateau, has adapted to its hypoxic, high-altitude environment over hundreds of years. The objective of this study was to identify the polymorphisms and genes associated with adaptation to hypoxia in this chicken breed. In the present study, samples were collected during days 18-21 of the incubation period from both surviving chicks and dead embryos, all of which were hatched under hypoxic conditions. A genome-wide association study was conducted using the Illumina iSelect 60K SNP array with a case-control design, in which the case group consisted of the dead chicken embryos (n = 54) and controls were the surviving chicks (n = 82)...
May 18, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29758293/tle1-a-key-player-in-neurogenesis-a-new-candidate-gene-for-autosomal-recessive-postnatal-microcephaly
#2
Mara Cavallin, Camille Maillard, Marie Hully, Marion Philbert, Nathalie Boddaert, Madeline Louise Reilly, Patrick Nitschké, Amandine Bery, Nadia Bahi-Buisson
Postnatal microcephaly comprises a heterogeneous group of neurodevelopmental disorders of varying severity, characterized by normal head size at birth, followed by a postnatal deceleration in head circumference of greater than 3 standard deviations (SD) below the mean. Many postnatal microcephaly syndromes are caused by mutations in genes known to be important for the regulation of gene expression in the developing forebrain. We studied a consanguineous Pakistani family with postnatal microcephaly, orofacial dyskinesia, spastic quadriplegia and, on MRI, cortical atrophy with myelination delay, suggestive of a FOXG1-like presentation...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29746601/aberrant-activity-of-nkl-homeobox-gene-nkx3-2-in-a-t-all-subset
#3
Stefan Nagel, Corinna Meyer, Maren Kaufmann, Margarete Zaborski, Roderick A F MacLeod, Hans G Drexler
T-cell acute lymphoblastic leukemia (T-ALL) is a hematopoietic malignancy originating from T-cell progenitors in which differentiation is blocked at early stages. Physiological expression of specific NKL homeobox genes obeys a hematopoietic NKL-code implicated in the process of lymphopoiesis while in differentiated T-cells these genes are silenced. We propose that this developmental expression pattern underlies the observation that NKL homeobox genes are the most ubiquitous group of transcription factors deregulated in T-ALL, including TLX1, TLX3, NKX2-5 and NKX3-1...
2018: PloS One
https://www.readbyqxmd.com/read/29718413/understanding-molecular-evolution-and-development-of-the-organ-of-corti-can-provide-clues-for-hearing-restoration
#4
Israt Jahan, Karen L Elliott, Bernd Fritzsch
The mammalian hearing organ is a stereotyped cellular assembly with orderly innervation: two types of spiral ganglion neurons (SGNs) innervate two types of differentially distributed hair cells (HCs). HCs and SGNs evolved from single neurosensory cells through gene multiplication and diversification. Independent regulation of HCs and neuronal differentiation through expression of basic Helix-loop-Helix transcription factors (bHLH TFs: Atoh1, Neurog1, Neurod1) led to the evolution of vestibular HC assembly and their unique type of innervation...
April 26, 2018: Integrative and Comparative Biology
https://www.readbyqxmd.com/read/29581755/foxg1-expression-is-elevated-in-glioma-and-inhibits-glioma-cell-apoptosis
#5
Jingying Chen, Xinmin Wu, Zhenkai Xing, Chi Ma, Wencheng Xiong, Xiaojuan Zhu, Xiaoxiao He
FOXG1, a member of forkhead family transcriptional factor, is involved in telencephalon development. Recent studies showed FOXG1 was important for a variety of cellular events in cancer cells. In respect to glioma, FOXG1 has been shown to regulate cell proliferation and cell cycles. However, its impacts on other cellular events were not well studied. Here, we found FOXG1 had high expression in clinical glioma tissues, and its expression positively correlated with glioma malignancy. Moreover, we found FOXG1 played roles in glioma cell apoptosis...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29524419/self-organizing-cortex-generated-from-human-ipscs-with-combination-of-fgf2-and-ambient-oxygen
#6
Noriomi Eguchi, Ichiro Sora, Keiko Muguruma
Human brain development has generally been studied through the analysis of postmortem tissues because of limited access to fetal brain tissues. This approach, however, only provides information from the perspective of long-term development. To investigate the pathophysiology of neurodevelopmental disorders, it is necessary to understand the detailed mechanisms of human brain development. Recent advances in pluripotent stem cell (PSC) technologies enable us to establish in vitro brain models from human induced PSCs (hiPSCs), which can be used to examine the pathophysiological mechanisms of neurodevelopmental disorders...
April 15, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29509249/mir-378-promotes-the-cell-proliferation-of-non-small-cell-lung-cancer-by-inhibiting-foxg1
#7
K-X Ji, F Cui, D Qu, R-Y Sun, P Sun, F-Y Chen, S-L Wang, H-S Sun
OBJECTIVE: To identify the functioning mode of miR-378 on non-small cell lung cancer (NSCLC) and provide therapeutic targets for NSCLC. PATIENTS AND METHODS: Expression levels of miR-378 in human NSCLC tissue samples and NSCLC-derived cell lines were measured by using quantitative Real-time polymerase chain reaction (PCR). Cell proliferation capacity was assessed by methyl thiazolyl tetrazolium (MTT) assay and colony formation assay. Cell apoptosis and cell cycle distribution were identified by flow cytometry...
February 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29437173/human-brain-organoid-on-a-chip-to-model-prenatal-nicotine-exposure
#8
Yaqing Wang, Li Wang, Yujuan Zhu, Jianhua Qin
Nicotine has been recognized to trigger various neuronal disabilities in the fetal brain and long-lasting behavioral deficits in offspring. However, further understanding of fetal brain development under nicotine exposure is challenging due to the limitations of existing animal models. Here, we create a new brain organoid-on-a-chip system derived from human induced pluripotent stem cells (hiPSCs) that allows us to model neurodevelopmental disorders under prenatal nicotine exposure (PNE) at early stages. The brain organoid-on-a-chip system facilitates 3D culture, in situ neural differentiation, and self-organization of brain organoids under continuous perfused cultures in a controlled manner...
March 13, 2018: Lab on a Chip
https://www.readbyqxmd.com/read/29396177/early-onset-movement-disorder-as-diagnostic-marker-in-genetic-syndromes-three-cases-of-foxg1-related-syndrome
#9
Camilla Caporali, Sabrina Signorini, Valentina De Giorgis, Anna Pichiecchio, Orsetta Zuffardi, Simona Orcesi
FOXG1-related syndrome is a developmental encephalopathy with a high phenotypic variability. A movement disorder presenting at onset is one of the main features, along with microcephaly and severe psychomotor delay without regression. Specific brain MRI findings facilitate the diagnosis. We report three cases of FOXG1-related syndrome, focusing on clinical onset, brain MRI and evolution over time in order to identify common features despite the three different underlying genotypes (14q12 deletion including the FOXG1 gene, FOXG1 intragenic mutation, 14q12 deletion including PRKD1 and a region regulating FOXG1 expression)...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29395664/rett-like-features-and-cortical-visual-impairment-in-a-japanese-patient-with-hecw2-mutation
#10
Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after the age of 1 year. Characteristically, she had cortical visual impairment. She had difficulty swallowing since the age of 4 years, and diminished activity was noticeable since the age of 12 years, suggesting neurodevelopmental regression...
May 2018: Brain & Development
https://www.readbyqxmd.com/read/29394901/foxg1-deletion-impairs-the-development-of-the-epithalamus
#11
Bin Liu, Kaixing Zhou, Xiaojing Wu, Chunjie Zhao
The epithalamus, which is dorsal to the thalamus, consists of the habenula, pineal gland and third ventricle choroid plexus and plays important roles in the stress response and sleep-wake cycle in vertebrates. During development, the epithalamus arises from the most dorsal part of prosomere 2. However, the mechanism underlying epithalamic development remains largely unknown. Foxg1 is critical for the development of the telencephalon, but its role in diencephalic development has been under-investigated. Patients suffering from FOXG1-related disorders exhibit severe anxiety, sleep disturbance and choroid plexus cysts, indicating that Foxg1 likely plays a role in epithalamic development...
February 2, 2018: Molecular Brain
https://www.readbyqxmd.com/read/29385539/foxg1-overexpression-in-neocortical-pyramids-stimulates-dendrite-elongation-via-hes1-and-pcreb1-upregulation
#12
Simone Chiola, Mihn Duc Do, Lucy Centrone, Antonello Mallamaci
The architecture of neocortical projection neurons is subject of a complex gene control. Here we demonstrated that Foxg1, a transcription factor gene which patterns the early rostral brain and sets the pace of telencephalic neuronogenesis, specifically stimulates dendrite elongation. This phenomenon occurs in vivo like in vitro, and it is detectable even upon moderate changes of Foxg1 expression levels. We found that Foxg1 acts by stimulating Hes1, which in turn upregulates pCreb1, a well-known pro-dendritogenic effector, and downregulates Syt and Ndr1, namely two established antagonizers of dendrite elongation...
January 28, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29322350/monogenic-disorders-that-mimic-the-phenotype-of-rett-syndrome
#13
Siddharth Srivastava, Sonal Desai, Julie Cohen, Constance Smith-Hicks, Kristin Barañano, Ali Fatemi, SakkuBai Naidu
Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT. We performed a retrospective chart review on n = 319 patients who had undergone clinical whole exome sequencing (WES) for further etiological evaluation of neurodevelopmental diagnoses that remained unexplained despite extensive prior workup...
January 2018: Neurogenetics
https://www.readbyqxmd.com/read/29321672/phenotypic-interpretation-of-complex-chromosomal-rearrangements-informed-by-nucleotide-level-resolution-and-structural-organization-of-chromatin
#14
Cinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, David J Harris, Helen Cox, Claire Redin, Zehra Ordulu, Michael E Talkowski, Cynthia C Morton
Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15)...
March 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29316219/characterization-of-a-foxg1-tle1-transcriptional-network-in-glioblastoma-initiating-cells
#15
Rola Dali, Federica Verginelli, Albena Pramatarova, Robert Sladek, Stefano Stifani
Glioblastoma (GBM) is the most common and deadly malignant brain cancer of glial cell origin, with a median patient survival of less than 20 months. Transcription factors FOXG1 and TLE1 promote GBM propagation by supporting maintenance of brain tumour initiating cells with stem-like properties. Here, we characterize FOXG1 and TLE1 target genes in glioblastoma patient-derived brain tumour initiating cells using ChIP-Seq and RNA-Seq approaches. These studies identify 150 direct FOXG1 targets, several of which are also TLE1 targets, involved in cell proliferation, differentiation, survival, chemotaxis and angiogenesis...
January 9, 2018: Molecular Oncology
https://www.readbyqxmd.com/read/29289958/regulatory-variants-of-foxg1-in-the-context-of-its-topological-domain-organisation
#16
Mana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, Giorgio Paskulin, Antonio Novelli, Francesco Benedicenti, Maria Antonietta Mencarelli, Alessandra Renieri, Tiffany Busa, Chantal Missirian, Claus Hansen, Kikue Terada Abe, Carlos Eduardo Speck-Martins, Angela M Vianna-Morgante, Mads Bak, Niels Tommerup
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. However, the size of the FOXG1 regulatory landscape is uncertain, because the associated topologically associating domain (TAD) in fibroblasts is split into two domains in embryonic stem cells (hESC). Indeed, it has been suggested that the pathogenetic mechanism of deletions that remove the stem-cell-specific TAD boundary may be enhancer adoption due to ectopic activity of enhancer(s) located in the distal hESC-TAD...
February 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29248687/nitric-oxide-promotes-epidermal-stem-cell-proliferation-via-foxg1-c-myc-signalling
#17
Rixing Zhan, Fan Wang, Ying Wu, Ying Wang, Wei Qian, Menglong Liu, Tengfei Liu, Weifeng He, Hui Ren, Gaoxing Luo
OBJECTIVE: Epidermal stem cells (ESCs) play a critical role in wound repair, but the mechanism underlying ESC proliferation is unclear. Here, we explored the effects of nitric oxide (NO) on ESC proliferation and the possible underlying mechanism. METHODS: The effect of NO (two NO donors, SNAP and spermine NONOate, were used) on cell proliferation was detected using cell proliferation and DNA synthesis assays. Thereafter, expression of FOXG1 and c-Myc induced by NO was determined by immunoblot analysis...
February 28, 2018: Nitric Oxide: Biology and Chemistry
https://www.readbyqxmd.com/read/29229772/hierarchical-genetic-interactions-between-foxg1-and-lhx2-regulate-the-formation-of-the-cortical-hem-in-the-developing-telencephalon
#18
Geeta Godbole, Ashwin S Shetty, Achira Roy, Leora D'Souza, Bin Chen, Goichi Miyoshi, Gordon Fishell, Shubha Tole
During forebrain development, a telencephalic organizer called the cortical hem is crucial for inducing hippocampal fate in adjacent cortical neuroepithelium. How the hem is restricted to its medial position is therefore a fundamental patterning issue. Here, we demonstrate that Foxg1 - Lhx2 interactions are crucial for the formation of the hem. Loss of either gene causes a region of the cortical neuroepithelium to transform into hem. We show that FOXG1 regulates Lhx2 expression in the cortical primordium. In the absence of Foxg1 , the presence of Lhx2 is sufficient to suppress hem fate, and hippocampal markers appear selectively in Lhx2 -expressing regions...
January 9, 2018: Development
https://www.readbyqxmd.com/read/29213293/collagen-derived-dipeptide-prolyl-hydroxyproline-promotes-osteogenic-differentiation-through-foxg1
#19
Yoshifumi Kimira, Haruka Odaira, Kaho Nomura, Yuri Taniuchi, Naoki Inoue, Sachie Nakatani, Jun Shimizu, Masahiro Wada, Hiroshi Mano
Prolyl-hydroxyproline (Pro-Hyp) is one of the major constituents of collagen-derived dipeptides. We previously reported that Pro-Hyp promotes the differentiation of osteoblasts by increasing Runx2, osterix and Col1α1 mRNA expression levels. Here, to elucidate the mechanism of Pro-Hyp promotion of osteoblast differentiation, we focus on the involvement of Foxo1 in osteoblast differentiation via Runx2 regulation and the role of Foxg1 in Foxo1 regulation. The addition of Pro-Hyp had no effect on MC3T3-E1 cell proliferation in Foxo1- or Foxg1-knockdown cells...
2017: Cellular & Molecular Biology Letters
https://www.readbyqxmd.com/read/29206688/current-developments-in-the-genetics-of-rett-and-rett-like-syndrome
#20
Friederike Ehrhart, Nasim B Sangani, Leopold M G Curfs
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes...
March 2018: Current Opinion in Psychiatry
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