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Yukino Nawa, Hanae Kaneko, Masayuki Oda, Masaaki Tsubonoya, Tomoko Hiroi, Maria Teresa Gentile, Luca Colucci-D'Amato, Ryoya Takahashi, Hiroaki Matsui
Tryptophan hydroxylase 2 (TPH2) is the key enzyme in the synthesis of neuronal serotonin. Although previous studies suggest that TPH2 NRSE (neuron-restrictive silencer element) functions as a negative regulator dependent on NRSF (neuron-restrictive silencer factor) activity, the underlying mechanisms are yet to be fully elucidated. Here, we show a detailed analysis of the NRSE-mediated repression of the human TPH2 (hTPH2) promoter activity in RN46A cells, a cell line derived from rat raphe neurons. Quantitative real-time RT-PCR analysis revealed the expression of serotonergic marker genes (Mash1, Nkx2...
May 2, 2017: Journal of Neurochemistry
Endika Haro, Billy A Watson, Jennifer M Feenstra, Luke Tegeler, Charmaine U Pira, Subburaman Mohan, Kerby C Oberg
Lmx1b is a homeodomain transcription factor responsible for limb dorsalization. Despite striking double-ventral (loss-of-function) and double-dorsal (gain-of-function) limb phenotypes, no direct gene targets in the limb have been confirmed. To determine direct targets, we performed a chromatin immunoprecipitation against Lmx1b at E12.5 followed by next generation sequencing (ChIP-seq). Nearly 84% (n=617) of the Lmx1b-bound genomic intervals (LBIs) identified overlap with chromatin regulatory marks indicative of potential cis-regulatory modules (PCRMs)...
April 28, 2017: Development
Marilyn C Jones, Sarah E Topol, Manuel Rueda, Glenn Oliveira, Tierney Phillips, Emily G Spencer, Ali Torkamani
PURPOSE: Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. However, 5% of cases remain unexplained. METHODS: Here, we present exome sequencing and analysis of four generations of a family with a dominantly inherited Nail-Patella-like disorder (nail dysplasia with some features of Nail-Patella syndrome) who tested negative for LMX1B mutation...
April 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki
BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis...
March 23, 2017: BMC Nephrology
Claire Monnereau, Pauline W Jansen, Henning Tiemeier, Vincent W V Jaddoe, Janine F Felix
OBJECTIVE: Childhood eating behaviors are associated with body mass index (BMI). Recent genome-wide association studies have identified many single-nucleotide polymorphisms (SNPs) associated with adult and childhood BMI. This study hypothesized that these SNPs also influence eating behavior. METHODS: In a population-based prospective cohort study among 3,031 children (mean age [standard deviation]: 4.0 [0.1] years), two weighted genetic risk scores, based on 15 childhood and 97 adult BMI SNPs, and ten individual appetite- and/or satiety-related SNPs were tested for association with food fussiness, food responsiveness, enjoyment of food, satiety responsiveness, and slowness in eating...
February 28, 2017: Obesity
Gentzon Hall, Brandon Lane, Megan Chryst-Ladd, Guanghong Wu, Jen-Jar Lin, XueJun Qin, Elizabeth R Hauser, Rasheed Gbadegesin
Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). We have identified two additional NPLRD families with the R246Q mutation, though the mechanisms by which LMX1BR246Q causes a renal-specific phenotype is unknown...
January 6, 2017: Scientific Reports
Lei Chen, Baoman Wang, ShaoPeng Wang, Jing Yang, Jerry Hu, ZhiQun Xie, Yuwei Wang, Tao Huang, Yu-Dong Cai
Oncogenes are genes that have the potential to cause cancer. Oncogene research can provide insight into the occurrence and development of cancer, thereby helping to prevent cancer and to design effective treatments. This study proposes a network method called the oncogene prediction method based on shortest path algorithm (OPMSP) for the identification of novel oncogenes in a large protein network built using protein-protein interaction data. Novel putative genes were extracted from the shortest paths connecting any two known oncogenes...
2016: Protein and Peptide Letters
Veronica J Cerpa, Yuanming Wu, Eduardo Bravo, Frida A Teran, Rachel S Flynn, George B Richerson
Serotonin (5-HT) neurons contribute to respiratory chemoreception in adult mice, but it is unclear whether they play a similar role in neonatal mice. We studied breathing during development in Lmx1b(f/f/p) mice, which lack 5-HT neurons. From postnatal days 1-7 (P1-P7), ventilation of Lmx1b(f/f/p) mice breathing room air was 50% of WT mice (p<0.001). By P12, baseline ventilation increased to a level equal to WT mice. In contrast, the hypercapnic ventilatory response (HCVR) of neonatal Lmx1b(f/f/p) and WT mice was equal to each other, but were both much less than adult WT mice...
March 6, 2017: Neuroscience
William C Hilinski, Jonathan R Bostrom, Samantha J England, José L Juárez-Morales, Sarah de Jager, Olivier Armant, Jessica Legradi, Uwe Strähle, Brian A Link, Katharine E Lewis
BACKGROUND: Alterations in neurotransmitter phenotypes of specific neurons can cause imbalances in excitation and inhibition in the central nervous system (CNS), leading to diseases. Therefore, the correct specification and maintenance of neurotransmitter phenotypes is vital. As with other neuronal properties, neurotransmitter phenotypes are often specified and maintained by particular transcription factors. However, the specific molecular mechanisms and transcription factors that regulate neurotransmitter phenotypes remain largely unknown...
2016: Neural Development
Jia Yu, Xueting Li, Junwei Yang, Yanping Wu, Baixiang Li
BACKGROUND Simazine is a triazine herbicide used worldwide in both agricultural and non-agricultural fields that is frequently detected in surface water and groundwater. Due to its widespread use, an increasing amount of research has focused on the potentially serious environmental and health risks. MATERIAL AND METHODS We used Western blotting and real-time quantitative PCR to analyze the effects of simazine on dopamine neuronal development-related factors in MN9D dopaminergic cells. RESULTS The expression of tyrosine hydroxylase (TH) mRNA was significantly increased after treatment with 300 and 600 μmol L-1 simazine after 24 and 48 h...
August 11, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Yutaka Harita, Sachiko Kitanaka, Tsuyoshi Isojima, Akira Ashida, Motoshi Hattori
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Renal involvement is the major determinant of the prognosis for NPS. Patients often present with varying degrees of proteinuria or hematuria, and can occasionally progress to chronic renal failure. Recent genetic analysis has found that some mutations in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy)...
July 23, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Hélène Doucet-Beaupré, Catherine Gilbert, Marcos Schaan Profes, Audrey Chabrat, Consiglia Pacelli, Nicolas Giguère, Véronique Rioux, Julien Charest, Qiaolin Deng, Ariadna Laguna, Johan Ericson, Thomas Perlmann, Siew-Lan Ang, Francesca Cicchetti, Martin Parent, Louis-Eric Trudeau, Martin Lévesque
The LIM-homeodomain transcription factors Lmx1a and Lmx1b play critical roles during the development of midbrain dopaminergic progenitors, but their functions in the adult brain remain poorly understood. We show here that sustained expression of Lmx1a and Lmx1b is required for the survival of adult midbrain dopaminergic neurons. Strikingly, inactivation of Lmx1a and Lmx1b recreates cellular features observed in Parkinson's disease. We found that Lmx1a/b control the expression of key genes involved in mitochondrial functions, and their ablation results in impaired respiratory chain activity, increased oxidative stress, and mitochondrial DNA damage...
July 26, 2016: Proceedings of the National Academy of Sciences of the United States of America
Sun Young Kim, Dong-Yeop Shin, Sang-Man Kim, Minyoung Lee, Eun Ju Kim
Aberrant hypermethylation of tumor suppressor genes is known to play an important role in the development of many tumors, and aberrant DNA hypermethylation was recently identified in hematologic malignancies, where it is thought to hold relevance in leukemogenesis. Here, we report that there are differences in the DNA methylation patterns seen in normal peripheral blood and two T-cell leukemia cell lines. We identify nine genes (CLEC4E, CR1, DBC1, EPO, HAL-DOA, IGF2, IL12B, ITGA1, and LMX1B) that are significantly hypermethylated in T-cell leukemias cell lines, and suggest that aberrant hypermethylation of these normally unmethylated genes may induce their transcriptional and expressional silencing...
August 2016: Leukemia Research
Christian Konrads, Stephan Reppenhagen, Piet Plumhoff, Maximilian Rudert, Andre Steinert, Thomas Barthel
INTRODUCTION: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. In those individuals a sagittal trochlear fibrous septum was found, dividing the anterior knee-joint-space. In the literature the etiology and clinical significance of this anatomic abnormality is unclear...
2016: SICOT-J
Soojin Kim, Yangu Zhao, Ja-Myong Lee, Woon Ryoung Kim, Marat Gorivodsky, Heiner Westphal, Dongho Geum
LIM domain-binding protein 1 (Ldb1) is a nuclear cofactor that interacts with LIM homeodomain proteins to form multiprotein complexes that are important for transcription regulation. Ldb1 has been shown to play essential roles in various processes during mouse embryogenesis. To determine the role of Ldb1 in mid- and hindbrain development, we have generated a conditional mutant with a specific deletion of the Ldb1 in the Engrailed-1-expressing region of the developing mid- and hindbrain. Our study showed that the deletion impaired the expression of signaling molecules, such as fibroblast growth factor 8 (FGF8) and Wnt1, in the isthmic organizer and the expression of Shh in the ventral midbrain...
July 1, 2016: Stem Cells and Development
O Figueroa-Silva, A Vicente, A Agudo, C Baliu-Piqué, S Gómez-Armayones, M J Aldunce-Soto, E J Inarejos Clemente, M Navallas Irujo, D Gutiérrez de la Iglesia, M A González-Enseñat
BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital...
September 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Georg Auburger, Suzana Gispert, Nadine Brehm
Hereditary Parkinson's disease can be triggered by an autosomal dominant overdose of alpha-Synuclein (SNCA) or the autosomal recessive deficiency of PINK1. We recently showed that the combination of PINK1-knockout with overexpression of A53T-SNCA in double mutant (DM) mice potentiates phenotypes and reduces survival. Now we studied brain hemispheres of DM mice at age of 18 months in a hypothesis-free approach, employing a quantitative label-free global proteomic mass spectrometry scan of posttranslational modifications focusing on methyl-arginine...
2016: Parkinson's Disease
Igor Y Iskusnykh, Ekaterina Y Steshina, Victor V Chizhikov
UNLABELLED: The brainstem contains diverse neuronal populations that regulate a wide range of processes vital to the organism. Proper cell-fate specification decisions are critical to achieve neuronal diversity in the CNS, but the mechanisms regulating cell-fate specification in the developing brainstem are poorly understood. Previously, it has been shown that basic helix-loop-helix transcription factor Ptf1a is required for the differentiation and survival of neurons of the inferior olivary and cochlear brainstem nuclei, which contribute to motor coordination and sound processing, respectively...
March 2, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Takao Konomoto, Hideaki Imamura, Mayuko Orita, Etsuko Tanaka, Hiroshi Moritake, Yuji Sato, Shouichi Fujimoto, Yutaka Harita, Satoshi Hisano, Koh-Ichiro Yoshiura, Hiroyuki Nunoi
AIM: Mutations of LMX1B cause nail-patella syndrome, a rare autosomal dominant disorder. Recently, LMX1B R246Q heterozygous mutations were recognised in nephropathy without extrarenal manifestation. The aim of this study was to clarify characteristics of nephropathy caused by R246Q mutation. METHODS: Whole exome sequencing was performed on a large family with nonsyndromic autosomal dominant nephropathy without extrarenal manifestation. Clinical and histological findings of patients with LMX1B mutation were investigated...
September 2016: Nephrology
Nora Szabo, Ronan V Da Silva, Susana G Sotocinal, Jeffrey S Mogil, Artur Kania
No abstract text is available yet for this article.
December 2015: International Journal of Developmental Neuroscience
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