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  1. Article ; Online: Tai Chi for cancer survivors: A systematic review toward consensus-based guidelines.

    Yang, Lin / Winters-Stone, Kerri / Rana, Benny / Cao, Chao / Carlson, Linda E / Courneya, Kerry S / Friedenreich, Christine M / Schmitz, Kathryn H

    Cancer medicine

    2021  Volume 10, Issue 21, Page(s) 7447–7456

    Abstract: To manage acute, long-term, and late effects of cancer, current guidelines recommend moderate-to-vigorous intensity aerobic and resistance exercise. Unfortunately, not all cancer survivors are able or willing to perform higher intensity exercise during ... ...

    Abstract To manage acute, long-term, and late effects of cancer, current guidelines recommend moderate-to-vigorous intensity aerobic and resistance exercise. Unfortunately, not all cancer survivors are able or willing to perform higher intensity exercise during difficult cancer treatments or because of other existing health conditions. Tai Chi is an equipment-free, multicomponent mind-body exercise performed at light-to-moderate intensity that may provide a more feasible alternative to traditional exercise programs for some cancer survivors. This systematic review evaluated the therapeutic efficacy of Tai Chi across the cancer care continuum. We searched MEDLINE/PubMed, Embase, SCOPUS, and CINAHL databases for interventional studies from inception to 18 September 2020. Controlled trials of the effects of Tai Chi training on patient-reported and objectively measured outcomes in cancer survivors were included. Study quality was determined by the RoB 2 tool, and effect estimates were evaluated using the Best Evidence Synthesis approach. Twenty-six reports from 14 trials (one non-randomized controlled trial) conducted during (n = 5) and after treatment (after surgery: n = 2; after other treatments: n = 7) were included. Low-level evidence emerged to support the benefits of 40-60 min of thrice-weekly supervised Tai Chi for 8-12 weeks to improve fatigue and sleep quality in cancer survivors. These findings need to be confirmed in larger trials and tested for scaling-up potential. Insufficient evidence was available to evaluate the effects of Tai Chi on other cancer-related outcomes. Future research should examine whether Tai Chi training can improve a broader range of cancer outcomes including during the pre-treatment and end of life phases.
    MeSH term(s) Cancer Survivors ; Fatigue/prevention & control ; Humans ; Practice Guidelines as Topic ; Sleep Quality ; Tai Ji
    Language English
    Publishing date 2021-09-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Systematic Review
    ZDB-ID 2659751-2
    ISSN 2045-7634 ; 2045-7634
    ISSN (online) 2045-7634
    ISSN 2045-7634
    DOI 10.1002/cam4.4273
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Genetic Diversity of Potassium Ion Channel Proteins Encoded by Chloroviruses That Infect

    Murry, Carter R / Agarkova, Irina V / Ghosh, Jayadri S / Fitzgerald, Fiona C / Carlson, Roger M / Hertel, Brigitte / Kukovetz, Kerri / Rauh, Oliver / Thiel, Gerhard / Van Etten, James L

    Viruses

    2020  Volume 12, Issue 6

    Abstract: Chloroviruses are large, plaque-forming, dsDNA viruses that infect chlorella-like green algae that live in a symbiotic relationship with protists. Chloroviruses have genomes from 290 to 370 kb, and they encode as many as 400 proteins. One interesting ... ...

    Abstract Chloroviruses are large, plaque-forming, dsDNA viruses that infect chlorella-like green algae that live in a symbiotic relationship with protists. Chloroviruses have genomes from 290 to 370 kb, and they encode as many as 400 proteins. One interesting feature of chloroviruses is that they encode a potassium ion (K
    MeSH term(s) Amino Acid Sequence/genetics ; Base Sequence ; Chlorella/virology ; DNA, Viral/genetics ; Genetic Variation/genetics ; Genome, Viral/genetics ; Phycodnaviridae/genetics ; Phycodnaviridae/metabolism ; Potassium Channels/genetics ; Protein Domains/genetics ; Sequence Analysis, DNA ; Viral Proteins/genetics
    Chemical Substances DNA, Viral ; Kcv potassium channel, Chlorella virus ; Potassium Channels ; Viral Proteins
    Language English
    Publishing date 2020-06-23
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2516098-9
    ISSN 1999-4915 ; 1999-4915
    ISSN (online) 1999-4915
    ISSN 1999-4915
    DOI 10.3390/v12060678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

    Rodriguez-Gil, Jorge L / Baxter, Laura L / Watkins-Chow, Dawn E / Johnson, Nicholas L / Davidson, Cristin D / Carlson, Steven R / Incao, Arturo A / Wallom, Kerri L / Farhat, Nicole Y / Platt, Frances M / Dale, Ryan K / Porter, Forbes D / Pavan, William J

    Human molecular genetics

    2021  Volume 30, Issue 24, Page(s) 2456–2468

    Abstract: The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological ... ...

    Abstract The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and premature death. The timing and severity of NPC1 clinical presentation is extremely heterogeneous. This study analyzed RNA-Seq data from 42 NPC1 patient-derived, primary fibroblast cell lines to determine transcriptional changes induced by treatment with 2-hydroxypropyl-β-cyclodextrin (HPβCD), a compound currently under investigation in clinical trials. A total of 485 HPβCD-responsive genes were identified. Pathway enrichment analysis of these genes showed significant involvement in cholesterol and lipid biosynthesis. Furthermore, immunohistochemistry of the cerebellum as well as measurements of plasma from Npc1m1N null mice treated with HPβCD and adeno-associated virus gene therapy suggests that one of the identified genes, GPNMB, may serve as a useful biomarker of treatment response in NPC1 disease. Overall, this large NPC1 patient-derived dataset provides a comprehensive foundation for understanding the genomic response to HPβCD treatment.
    MeSH term(s) 2-Hydroxypropyl-beta-cyclodextrin ; Animals ; Biomarkers ; Disease Models, Animal ; Eye Proteins/genetics ; Humans ; Membrane Glycoproteins/genetics ; Mice ; Mice, Knockout ; Niemann-Pick Disease, Type C/drug therapy ; Niemann-Pick Disease, Type C/genetics ; Niemann-Pick Disease, Type C/pathology ; Transcriptome
    Chemical Substances Biomarkers ; Eye Proteins ; GPNMB protein, human ; Gpnmb protein, mouse ; Membrane Glycoproteins ; 2-Hydroxypropyl-beta-cyclodextrin (1I96OHX6EK)
    Language English
    Publishing date 2021-07-22
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddab194
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: A pilot study evaluating a one-session attention modification training to decrease overeating in obese children.

    Boutelle, Kerri N / Kuckertz, Jennie M / Carlson, Jordan / Amir, Nader

    Appetite

    2014  Volume 76, Page(s) 180–185

    Abstract: There are a number of neurocognitive and behavioral mechanisms that contribute to overeating and obesity, including an attentional bias to food cues. Attention modification programs, which implicitly train attention away from specific cues, have been ... ...

    Abstract There are a number of neurocognitive and behavioral mechanisms that contribute to overeating and obesity, including an attentional bias to food cues. Attention modification programs, which implicitly train attention away from specific cues, have been used in anxiety and substance abuse, and could logically be applied to food cues. The purpose of this study was to evaluate the initial efficacy of a single session attention modification training for food cues (AMP) on overeating in overweight and obese children. Twenty-four obese children who eat in the absence of hunger participated in two visits and were assigned to an attention modification program (AMP) or attentional control program (ACC). The AMP program trained attention away 100% of the time from food words to neutral words. The ACC program trained attention 50% of the time to neutral and 50% of the time to food. Outcome measures included the eating in the absence of hunger free access session, and measures of craving, liking and salivation. Results revealed significant treatment effects for EAH percent and EAH kcal (group by time interactions p<.05). Children in the ACC condition showed a significant increase over time in the number of calories consumed in the free access session (within group t=3.09, p=.009) as well as the percent of daily caloric needs consumed in free access (within group t=3.37, p=.006), whereas children in the AMP group demonstrated slight decreases in these variables (within group t=-0.75 and -0.63, respectively). There was a trend suggesting a beneficial effect of AMP as compared to ACC for attentional bias (group by time interaction p=.073). Changes in craving, liking and saliva were not significantly different between groups (ps=.178-.527). This is the first study to demonstrate that an AMP program can influence eating in obese children. Larger studies are needed to replicate and extend these results.
    MeSH term(s) Attention/physiology ; Child ; Cues ; Energy Intake ; Feeding Behavior/psychology ; Female ; Food ; Humans ; Hunger/physiology ; Hyperphagia/psychology ; Hyperphagia/therapy ; Male ; Pediatric Obesity/psychology ; Pediatric Obesity/therapy ; Pilot Projects
    Language English
    Publishing date 2014-02-08
    Publishing country England
    Document type Journal Article ; Randomized Controlled Trial ; Research Support, N.I.H., Extramural
    ZDB-ID 1461347-5
    ISSN 1095-8304 ; 0195-6663
    ISSN (online) 1095-8304
    ISSN 0195-6663
    DOI 10.1016/j.appet.2014.01.075
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Genetic Diversity of Potassium Ion Channel Proteins Encoded by Chloroviruses That Infect Chlorella heliozoae

    Murry, Carter R / Agarkova, Irina V / Ghosh, Jayadri S / Fitzgerald, Fiona C / Carlson, Roger M / Hertel, Brigitte / Kukovetz, Kerri / Rauh, Oliver / Thiel, Gerhard / Van Etten, James L

    Viruses. 2020 June 23, v. 12, no. 6

    2020  

    Abstract: Chloroviruses are large, plaque-forming, dsDNA viruses that infect chlorella-like green algae that live in a symbiotic relationship with protists. Chloroviruses have genomes from 290 to 370 kb, and they encode as many as 400 proteins. One interesting ... ...

    Abstract Chloroviruses are large, plaque-forming, dsDNA viruses that infect chlorella-like green algae that live in a symbiotic relationship with protists. Chloroviruses have genomes from 290 to 370 kb, and they encode as many as 400 proteins. One interesting feature of chloroviruses is that they encode a potassium ion (K⁺) channel protein named Kcv. The Kcv protein encoded by SAG chlorovirus ATCV-1 is one of the smallest known functional K⁺ channel proteins consisting of 82 amino acids. The KcvATCV₋₁ protein has similarities to the family of two transmembrane domain K⁺ channel proteins; it consists of two transmembrane α-helixes with a pore region in the middle, making it an ideal model for studying K⁺ channels. To assess their genetic diversity, kcv genes were sequenced from 103 geographically distinct SAG chlorovirus isolates. Of the 103 kcv genes, there were 42 unique DNA sequences that translated into 26 new Kcv channels. The new predicted Kcv proteins differed from KcvATCV₋₁ by 1 to 55 amino acids. The most conserved region of the Kcv protein was the filter, the turret and the pore helix were fairly well conserved, and the outer and the inner transmembrane domains of the protein were the most variable. Two of the new predicted channels were shown to be functional K⁺ channels.
    Keywords Chlorella ; Chlorovirus ; DNA ; amino acids ; genes ; genetic variation ; models ; nucleotide sequences ; potassium ; potassium channels ; protists ; symbiosis ; translation (genetics)
    Language English
    Dates of publication 2020-0623
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2516098-9
    ISSN 1999-4915
    ISSN 1999-4915
    DOI 10.3390/v12060678
    Database NAL-Catalogue (AGRICOLA)

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  6. Article ; Online: Emerging pathogenic pathways in the spinocerebellar ataxias.

    Carlson, Kerri M / Andresen, J Michael / Orr, Harry T

    Current opinion in genetics & development

    2009  Volume 19, Issue 3, Page(s) 247–253

    Abstract: The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 autosomal dominant SCAs have been described and seventeen causative genes identified. These genes play a role in a broad range of ... ...

    Abstract The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 autosomal dominant SCAs have been described and seventeen causative genes identified. These genes play a role in a broad range of cellular processes. Recent studies focused on the wild type and pathogenic functions of these genes implicate both gene expression and glutamate-dependent and calcium-dependent neuronal signaling as important pathways leading to cerebellar dysfunction. Understanding how these genes cause disease will allow a deeper understanding of the cerebellum in particular as well as neurodegenerative disease in general.
    MeSH term(s) Animals ; Humans ; Models, Biological ; Multigene Family ; Mutation ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/physiology ; Purkinje Cells/physiology ; Signal Transduction/genetics ; Signal Transduction/physiology ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Ataxias/physiopathology
    Chemical Substances Nerve Tissue Proteins
    Language English
    Publishing date 2009-04-01
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2009.02.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: A pilot study evaluating a one-session attention modification training to decrease overeating in obese children

    Boutelle, Kerri N / Jennie M. Kuckertz / Jordan Carlson / Nader Amir

    Appetite. 2014 May 01, v. 76

    2014  

    Abstract: There are a number of neurocognitive and behavioral mechanisms that contribute to overeating and obesity, including an attentional bias to food cues. Attention modification programs, which implicitly train attention away from specific cues, have been ... ...

    Abstract There are a number of neurocognitive and behavioral mechanisms that contribute to overeating and obesity, including an attentional bias to food cues. Attention modification programs, which implicitly train attention away from specific cues, have been used in anxiety and substance abuse, and could logically be applied to food cues. The purpose of this study was to evaluate the initial efficacy of a single session attention modification training for food cues (AMP) on overeating in overweight and obese children. Twenty-four obese children who eat in the absence of hunger participated in two visits and were assigned to an attention modification program (AMP) or attentional control program (ACC). The AMP program trained attention away 100% of the time from food words to neutral words. The ACC program trained attention 50% of the time to neutral and 50% of the time to food. Outcome measures included the eating in the absence of hunger free access session, and measures of craving, liking and salivation. Results revealed significant treatment effects for EAH percent and EAH kcal (group by time interactions p<.05). Children in the ACC condition showed a significant increase over time in the number of calories consumed in the free access session (within group t=3.09, p=.009) as well as the percent of daily caloric needs consumed in free access (within group t=3.37, p=.006), whereas children in the AMP group demonstrated slight decreases in these variables (within group t=−0.75 and −0.63, respectively). There was a trend suggesting a beneficial effect of AMP as compared to ACC for attentional bias (group by time interaction p=.073). Changes in craving, liking and saliva were not significantly different between groups (ps=.178–.527). This is the first study to demonstrate that an AMP program can influence eating in obese children. Larger studies are needed to replicate and extend these results.
    Keywords anxiety ; childhood obesity ; children ; craving ; hunger ; overeating ; saliva ; salivation ; substance abuse
    Language English
    Dates of publication 2014-0501
    Size p. 180-185.
    Publishing place Elsevier Ltd
    Document type Article
    ZDB-ID 764440-1
    ISSN 0195-6663
    ISSN 0195-6663
    DOI 10.1016/j.appet.2014.01.075
    Database NAL-Catalogue (AGRICOLA)

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  8. Article: WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.

    Zhang, Xinruo / Brody, Jennifer A / Graff, Mariaelisa / Highland, Heather M / Chami, Nathalie / Xu, Hanfei / Wang, Zhe / Ferrier, Kendra / Chittoor, Geetha / Josyula, Navya S / Li, Xihao / Li, Zilin / Allison, Matthew A / Becker, Diane M / Bielak, Lawrence F / Bis, Joshua C / Boorgula, Meher Preethi / Bowden, Donald W / Broome, Jai G /
    Buth, Erin J / Carlson, Christopher S / Chang, Kyong-Mi / Chavan, Sameer / Chiu, Yen-Feng / Chuang, Lee-Ming / Conomos, Matthew P / DeMeo, Dawn L / Du, Margaret / Duggirala, Ravindranath / Eng, Celeste / Fohner, Alison E / Freedman, Barry I / Garrett, Melanie E / Guo, Xiuqing / Haiman, Chris / Heavner, Benjamin D / Hidalgo, Bertha / Hixson, James E / Ho, Yuk-Lam / Hobbs, Brian D / Hu, Donglei / Hui, Qin / Hwu, Chii-Min / Jackson, Rebecca D / Jain, Deepti / Kalyani, Rita R / Kardia, Sharon L R / Kelly, Tanika N / Lange, Ethan M / LeNoir, Michael / Li, Changwei / Marchand, Loic Le / McDonald, Merry-Lynn N / McHugh, Caitlin P / Morrison, Alanna C / Naseri, Take / O'Connell, Jeffrey / O'Donnell, Christopher J / Palmer, Nicholette D / Pankow, James S / Perry, James A / Peters, Ulrike / Preuss, Michael H / Rao, D C / Regan, Elizabeth A / Reupena, Sefuiva M / Roden, Dan M / Rodriguez-Santana, Jose / Sitlani, Colleen M / Smith, Jennifer A / Tiwari, Hemant K / Vasan, Ramachandran S / Wang, Zeyuan / Weeks, Daniel E / Wessel, Jennifer / Wiggins, Kerri L / Wilkens, Lynne R / Wilson, Peter W F / Yanek, Lisa R / Yoneda, Zachary T / Zhao, Wei / Zöllner, Sebastian / Arnett, Donna K / Ashley-Koch, Allison E / Barnes, Kathleen C / Blangero, John / Boerwinkle, Eric / Burchard, Esteban G / Carson, April P / Chasman, Daniel I / Chen, Yii-Der Ida / Curran, Joanne E / Fornage, Myriam / Gordeuk, Victor R / He, Jiang / Heckbert, Susan R / Hou, Lifang / Irvin, Marguerite R / Kooperberg, Charles / Minster, Ryan L / Mitchell, Braxton D / Nouraie, Mehdi / Psaty, Bruce M / Raffield, Laura M / Reiner, Alexander P / Rich, Stephen S / Rotter, Jerome I / Shoemaker, M Benjamin / Smith, Nicholas L / Taylor, Kent D / Telen, Marilyn J / Weiss, Scott T / Zhang, Yingze / Heard-Costa, Nancy / Sun, Yan V / Lin, Xihong / Adrienne Cupples, L / Lange, Leslie A / Liu, Ching-Ti / Loos, Ruth J F / North, Kari E / Justice, Anne E

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole- ... ...

    Abstract Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (
    Language English
    Publishing date 2023-08-22
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.08.21.23293271
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Endometrial Cancer Surgery With or Without Concomitant Stress Urinary Incontinence Surgery.

    Robison, Katina / Wohlrab, Kyle / Howe, Chanelle J / Richter, Holly E / Sung, Vivian / Bevis, Kerri S / Luis, Christine / McCourt, Carolyn / Lowder, Jerry / Occhino, John / Glaser, Gretchen / Lokich, Elizabeth / Dunivan, Gena / Brown, Amy / Tunitsky-Bitton, Elena / Wethington, Stephanie / Chen, Chi Chiung Grace / Rahn, David / Carlson, Matthew /
    Cram, Robin / Raker, Christina / Clark, Melissa A

    Obstetrics and gynecology

    2023  Volume 141, Issue 4, Page(s) 642–652

    Abstract: Objective: To compare quality of life (QOL) among patients with endometrial intraepithelial neoplasia or early-stage endometrial cancer and stress urinary incontinence (SUI) who chose to have concomitant surgery with cancer surgery alone.: Methods: A ...

    Abstract Objective: To compare quality of life (QOL) among patients with endometrial intraepithelial neoplasia or early-stage endometrial cancer and stress urinary incontinence (SUI) who chose to have concomitant surgery with cancer surgery alone.
    Methods: A multicenter, prospective cohort study was conducted across eight U.S. sites. Potentially eligible patients were screened for SUI symptoms. Those who screened positive were offered referral to urogynecology and incontinence treatment, including concomitant surgery. Participants were categorized into two groups: 1) concomitant cancer and SUI surgery or 2) cancer surgery alone. The primary outcome was cancer-related QOL as measured by the FACT-En (Functional Assessment of Cancer Therapy-Endometrial) (range 0-100; higher score indicates better QOL). The FACT-En and questionnaires assessing urinary symptom-specific severity and effects were assessed before surgery and 6 weeks, 6 months, and 12 months after surgery. Adjusted median regression accounting for clustering was used to examine the relationship between SUI treatment group and FACT-En scores.
    Results: Of 1,322 (53.1%) patients, 702 screened positive for SUI with 532 analyzed; 110 (21%) chose concomitant cancer and SUI surgery, and 422 (79%) chose cancer surgery alone. FACT-En scores increased for both the concomitant SUI surgery and cancer surgery-only groups from the preoperative to the postoperative period. After adjustment for timepoint and preoperative covariates, the median change in FACT-En score (postoperative-preoperative) was 1.2 points higher (95% CI -1.3 to 3.6) for the concomitant SUI surgery group compared with the cancer surgery-only group across the postoperative period. Median time until surgery (22 days vs 16 days; P <.001), estimated blood loss (150 mL vs 72.5 mL; P <.001), and operative time (185.5 minutes vs 152 minutes; P <.001) were all greater for the concomitant cancer and SUI surgery group compared with the cancer-only group, respectively.
    Conclusion: Concomitant surgery did not result in improved QOL compared with cancer surgery alone for endometrial intraepithelial neoplasia and patients with early-stage endometrial cancer with SUI. However, FACT-En scores were improved in both groups.
    MeSH term(s) Humans ; Female ; Urinary Incontinence, Stress/surgery ; Urinary Incontinence, Stress/diagnosis ; Quality of Life ; Prospective Studies ; Urinary Incontinence ; Endometrial Neoplasms/complications ; Endometrial Neoplasms/surgery
    Language English
    Publishing date 2023-03-09
    Publishing country United States
    Document type Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207330-4
    ISSN 1873-233X ; 0029-7844
    ISSN (online) 1873-233X
    ISSN 0029-7844
    DOI 10.1097/AOG.0000000000005059
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Characterization of the zebrafish atxn1/axh gene family.

    Carlson, Kerri M / Melcher, Laura / Lai, Shaojuan / Zoghbi, Huda Y / Clark, H Brent / Orr, Harry T

    Journal of neurogenetics

    2008  Volume 23, Issue 3, Page(s) 313–323

    Abstract: In mammals, ataxin-1 (ATXN1) is a member of a family of proteins in which each member contains an AXH domain. Expansion of the polyglutamine tract in ATXN1 causes the neurodegenerative disease, spinocerebellar ataxia type 1 (SCA1) with prominent ... ...

    Abstract In mammals, ataxin-1 (ATXN1) is a member of a family of proteins in which each member contains an AXH domain. Expansion of the polyglutamine tract in ATXN1 causes the neurodegenerative disease, spinocerebellar ataxia type 1 (SCA1) with prominent cerebellar pathology. Toward a further characterization of the genetic diversification of the ATXN1/AXH gene family, we identified and characterized members of this gene family in zebrafish, a lower vertebrate with a cerebellum. The zebrafish genome encodes two ATXN1 homologs, atxn1a and atxn1b, and one ATXN1L homolog, atxn1l. Key biochemical features of the human ATXN1 protein not seen in the invertebrate homologs (a nuclear localization sequence and a site of phosphorylation at serine 776) are conserved in the zebrafish homologs, and all three zebrafish Atxn1/Axh proteins behave similarly to their human counterparts in tissue-culture cells. Importantly, each of the three homologs is expressed in the zebrafish cerebellum, which in humans, is a prominent site of SCA1 pathogenesis. In addition, atxn1a and atxn1b are expressed in the developing zebrafish cerebellum. These data show that in zebrafish, a lower vertebrate, the complexity of the atxn1/axh gene family is more similar to higher vertebrates than invertebrates with a simple central nervous system and suggests a relationship between the diversification of the ATXN1/AXH gene family and the development of a complex central nervous system, including a cerebellum.
    MeSH term(s) Animals ; Animals, Genetically Modified ; Ataxin-1 ; Ataxins ; Brain/cytology ; Brain/embryology ; Brain/growth & development ; COS Cells ; Chlorocebus aethiops ; Embryo, Nonmammalian ; Gene Expression Regulation, Developmental/genetics ; Humans ; Nerve Tissue Proteins/classification ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/physiology ; Neurons/metabolism ; Nuclear Proteins/classification ; Nuclear Proteins/genetics ; Nuclear Proteins/physiology ; Peptides/genetics ; Phosphorylation/genetics ; Sequence Alignment ; Serine/metabolism ; Transfection/methods ; Zebrafish/genetics ; Zebrafish Proteins/genetics
    Chemical Substances ATXN1 protein, human ; Ataxin-1 ; Ataxins ; Nerve Tissue Proteins ; Nuclear Proteins ; Peptides ; Zebrafish Proteins ; polyglutamine (26700-71-0) ; Serine (452VLY9402)
    Language English
    Publishing date 2008-12-10
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 605543-6
    ISSN 1563-5260 ; 0167-7063
    ISSN (online) 1563-5260
    ISSN 0167-7063
    DOI 10.1080/01677060802399976
    Database MEDical Literature Analysis and Retrieval System OnLINE

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