Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 40 Records) |
Query Trace: ACAN[original query] |
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.
Human molecular genetics 2015 Feb 24 (4): 1155-68. van der Valk Ralf J P, Kreiner-Møller Eskil, Kooijman Marjolein N, Guxens Mònica, Stergiakouli Evangelia, Sääf Annika, Bradfield Jonathan P, Geller Frank, Hayes M Geoffrey, Cousminer Diana L, Körner Antje, Thiering Elisabeth, Curtin John A, Myhre Ronny, Huikari Ville, Joro Raimo, Kerkhof Marjan, Warrington Nicole M, Pitkänen Niina, Ntalla Ioanna, Horikoshi Momoko, Veijola Riitta, Freathy Rachel M, Teo Yik-Ying, Barton Sheila J, Evans David M, Kemp John P, St Pourcain Beate, Ring Susan M, Davey Smith George, Bergström Anna, Kull Inger, Hakonarson Hakon, Mentch Frank D, Bisgaard Hans, Chawes Bo, Stokholm Jakob, Waage Johannes, Eriksen Patrick, Sevelsted Astrid, Melbye Mads, , van Duijn Cornelia M, Medina-Gomez Carolina, Hofman Albert, de Jongste Johan C, Taal H Rob, Uitterlinden André G, , Armstrong Loren L, Eriksson Johan, Palotie Aarno, Bustamante Mariona, Estivill Xavier, Gonzalez Juan R, Llop Sabrina, Kiess Wieland, Mahajan Anubha, Flexeder Claudia, Tiesler Carla M T, Murray Clare S, Simpson Angela, Magnus Per, Sengpiel Verena, Hartikainen Anna-Liisa, Keinanen-Kiukaanniemi Sirkka, Lewin Alexandra, Da Silva Couto Alves Alexessander, Blakemore Alexandra I, Buxton Jessica L, Kaakinen Marika, Rodriguez Alina, Sebert Sylvain, Vaarasmaki Marja, Lakka Timo, Lindi Virpi, Gehring Ulrike, Postma Dirkje S, Ang Wei, Newnham John P, Lyytikäinen Leo-Pekka, Pahkala Katja, Raitakari Olli T, Panoutsopoulou Kalliope, Zeggini Eleftheria, Boomsma Dorret I, Groen-Blokhuis Maria, Ilonen Jorma, Franke Lude, Hirschhorn Joel N, Pers Tune H, Liang Liming, Huang Jinyan, Hocher Berthold, Knip Mikael, Saw Seang-Mei, Holloway John W, Melén Erik, Grant Struan F A, Feenstra Bjarke, Lowe William L, Widén Elisabeth, Sergeyev Elena, Grallert Harald, Custovic Adnan, Jacobsson Bo, Jarvelin Marjo-Riitta, Atalay Mustafa, Koppelman Gerard H, Pennell Craig E, Niinikoski Harri, Dedoussis George V, Mccarthy Mark I, Frayling Timothy M, Sunyer Jordi, Timpson Nicholas J, Rivadeneira Fernando, Bønnelykke Klaus, Jaddoe Vincent W V, |
Association between the CpG island methylator phenotype and its prognostic significance in primary pulmonary adenocarcinoma. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2016 Feb . Koh Young Wha, Chun Sung-Min, Park Young-Soo, Song Joon Seon, Lee Geon Kook, Khang Shin Kwang, Jang Se J |
CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study. Genetics and molecular research : GMR 2016 Dec 15 (4): . Casa N L L, Casa Junior A J, Melo A V, Teodoro L S, Nascimento G R, Sousa A F, Flausino T C, Brito D, Bergamini R, Minasi L B, da Cruz A D, Vieira T C, Curado M |
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Scientific reports 2017 9 7 (1): 12225. Hauer Nadine N, Sticht Heinrich, Boppudi Sangamitra, Büttner Christian, Kraus Cornelia, Trautmann Udo, Zenker Martin, Zweier Christiane, Wiesener Antje, Jamra Rami Abou, Wieczorek Dagmar, Kelkel Jaqueline, Jung Anna-Maria, Uebe Steffen, Ekici Arif B, Rohrer Tilman, Reis André, Dörr Helmuth-Günther, Thiel Christian |
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature. Endocrine journal 2017 8 64 (10): 947-954. Hattori Atsushi, Katoh-Fukui Yuko, Nakamura Akie, Matsubara Keiko, Kamimaki Tsutomu, Tanaka Hiroyuki, Dateki Sumito, Adachi Masanori, Muroya Koji, Yoshida Shinobu, Ida Shinobu, Mitani Marie, Nagasaki Keisuke, Ogata Tsutomu, Suzuki Erina, Hata Kenichiro, Nakabayashi Kazuhiko, Matsubara Yoichi, Narumi Satoshi, Tanaka Toshiaki, Fukami Ma |
Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain. PloS one 2017 12 (7): e0181580. Perera Romain Shanil, Dissanayake Poruwalage Harsha, Senarath Upul, Wijayaratne Lalith Sirimevan, Karunanayake Aranjan Lional, Dissanayake Vajira Harshadeva Weerabadda |
Are genes encoding proteoglycans really associated with the risk of anterior cruciate ligament rupture? Biology of sport 2017 Jun 34 (2): 97-103. Ci?szczyk P, Willard K, Gronek P, Zmijewski P, Trybek G, Gronek J, Weber-Rajek M, Stastny P, Petr M, Luli?ska-Kuklik E, Ficek K, Kemeryte-Riaubiene E, Maculewicz E, September A |
Single Nucleotide Variants of Candidate Genes in Aggrecan Metabolic Pathway Are Associated with Lumbar Disc Degeneration and Modic Changes. PloS one 2017 1 12 (1): e0169835. Perera Romain Shanil, Dissanayake Poruwalage Harsha, Senarath Upul, Wijayaratne Lalith Sirimevan, Karunanayake Aranjan Lional, Dissanayake Vajira Harshadeva Weerabadda |
The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease. In vivo (Athens, Greece) 0 33 (2): 413-417. Yaltirik Cumhur Kaan, Timirci-Kahraman Özlem, Gulec-Yilmaz Seda, Ozdogan Selcuk, Atalay Basar, Isbir Turg |
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature. European journal of endocrinology 2019 Dec . Stavber L, Hovnik T, Kotnik P, Lovre?i? L, Kova? J, Tesovnik T, Bertok S, Dov? K, Debeljak M, Battelino T, Avbelj Stefanija |
Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy. Molecular genetics & genomic medicine 2019 Sep e979. López-Jiménez José de Jesús, Ortega-Cervantes Ricardo, Luna-Záizar Hilda, Fletes-Rayas Ana-Lilia, Beltrán-Miranda Claudia-Patricia, Troyo-Sanromán Rogelio, Soto-Padilla Janet, Tlacuilo-Parra Alberto, Jaloma-Cruz Ana-Rebe |
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of clinical endocrinology and metabolism 2019 1 104 (6): 2023-2030. Freire Bruna L, Homma Thais K, Funari Mariana F A, Lerario Antônio M, Vasques Gabriela A, Malaquias Alexsandra C, Arnhold Ivo J P, Jorge Alexander A |
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 2021 9 185 (5): 691-705. Sentchordi-Montané Lucía, Benito-Sanz Sara, Aza-Carmona Miriam, Díaz-González Francisca, Modamio-Høybjør Silvia, de la Torre Carolina, Nevado Julián, Ruiz-Ocaña Pablo, Bezanilla-López Carolina, Prieto Pablo, Bahíllo-Curieses Pilar, Carcavilla Atilano, Mulero-Collantes Inés, Barreda-Bonis Ana C, Cruz-Rojo Jaime, Ramírez-Fernández Joaquín, Bermúdez de la Vega José Antonio, Travessa André M, González de Buitrago Amigo Jesús, Del Pozo Angela, Vallespín Elena, Solís Mario, Goetz Carlos, Campos-Barros Ángel, Santos-Simarro Fernando, González-Casado Isabel, Ros-Pérez Purificación, Parrón-Pajares Manuel, Heath Karen |
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis. Human genetics 2021 Aug . Højland Allan Thomas, Tavernier Lisse J M, Schrauwen Isabelle, Sommen Manou, Topsakal Vedat, Schatteman Isabelle, Dhooge Ingeborg, Huber Alex, Zanetti Diego, Kunst Henricus P M, Hoischen Alexander, Petersen Michael B, Van Camp Guy, Fransen Er |
Driver and novel genes correlated with metastasis of non-small cell lung cancer: A comprehensive analysis. Pathology, research and practice 2021 Jul 224 153551. Wu Yongfeng, Ni Heng, Yang Dexin, Niu Yuequn, Chen Kelie, Xu Jinming, Wang Fang, Tang Song, Shi Yu, Zhang Honghe, Hu Jian, Xia Dajing, Wu Yih |
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nature genetics 2021 5 53 (6): 779-786. Beyter Doruk, Ingimundardottir Helga, Oddsson Asmundur, Eggertsson Hannes P, Bjornsson Eythor, Jonsson Hakon, Atlason Bjarni A, Kristmundsdottir Snaedis, Mehringer Svenja, Hardarson Marteinn T, Gudjonsson Sigurjon A, Magnusdottir Droplaug N, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Kristjansson Ragnar P, Sverrisson Sverrir T, Holley Guillaume, Palsson Gunnar, Stefansson Olafur A, Eyjolfsson Gudmundur, Olafsson Isleifur, Sigurdardottir Olof, Torfason Bjarni, Masson Gisli, Helgason Agnar, Thorsteinsdottir Unnur, Holm Hilma, Gudbjartsson Daniel F, Sulem Patrick, Magnusson Olafur T, Halldorsson Bjarni V, Stefansson Ka |
Elevated BMI is considerably associated with IDD rather than polymorphic variations in interleukin-1 and vitamin D receptor genes: A case-control study. Journal of medical biochemistry 2021 Mar 40 (2): 129-137. Al-Zoubi Mazhar Salim, Otoum Osama, Alsmadi Mohammed, Muhaidat Riyadh, Albdour Ahmed, Mohaidat Ziyad, Abu Alarjah Manal Issam, Al-Zoubi Raed M, Al-Batayneh Khalid |
A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. The Journal of clinical endocrinology and metabolism 2021 Feb . Lin Li, Li Mengting, Luo Jingsi, Li Pin, Zhou Shasha, Yang Yu, Chen Ka, Weng Ying, Ge Xiuying, Mireguli Maimaiti, Wei Haiyan, Yang Haihua, Li Guimei, Sun Yan, Cui Lanwei, Zhang Shulin, Chen Jing, Zeng Guozhang, Xu Lijun, Luo Xiaoping, Shen Yipi |
Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone. Clinica chimica acta; international journal of clinical chemistry 2021 11 524 1-10. He Dongye, Li Yanying, Yang Wanling, Chen Shuxiong, Sun Hailing, Li Ping, Zhang Mei, Ban |
Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients. Molecular and cellular endocrinology 2021 10 544 111489. Ahn Jungmin, Oh Jiyoung, Suh Junghwan, Song Kyungchul, Kwon Ahreum, Chae Hyun Wook, Oh Jun Suk, Lee Hae In, Lee Myeong Seob, Kim Ho-Seo |
Genes and SNPs Involved with Scrotal and Umbilical Hernia in Pigs. Genes 2021 1 12 (2): . Rodrigues Ariene Fernanda Grando, Ibelli Adriana Mércia Guaratini, Peixoto Jane de Oliveira, Cantão Maurício Egídio, Oliveira Haniel Cedraz de, Savoldi Igor Ricardo, Souza Mayla Regina, Mores Marcos Antônio Zanella, Carreño Luis Orlando Duitama, Ledur Mônica Corr |
Association between vitamin D receptor gene polymorphism (rs731236) and aggrecan gene VNTR polymorphism with the risk of lumbar intervertebral disc degeneration. Caspian journal of internal medicine 2022 13 (2): 418-424. Haddadi Kaveh, Sahebi Mohammad, Mahrooz Abdolkarim, ShayestehAzar Masoud, Hashemi-Soteh Mohammad Bagh |
Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients. Medeniyet medical journal 2022 6 37 (2): 150-158. Arslan Ates Esra, Turkyilmaz Ayberk, Alavanda Ceren, Yildirim Ozlem, Guney Ahmet Ilt |
The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation. Frontiers in genetics 2022 5 13 891040. Wu Su, Wang Chunli, Cao Qing, Zhu Ziyang, Liu Qianqi, Gu Xinyan, Zheng Bixia, Zhou Wei, Jia Zhanjun, Gu Wei, Li Xiaon |
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
The relationship between the aggrecan VNTR polymorphism and its content in lumbar intervertebral discs. Folia morphologica 2022 3 . P?kala P, Felkle D, Dykas K, Jarosz A, Elnazir P, Konopka T, Walocha J A, Dulinska-Litewka |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
[Etiological analysis of a patient with multiple primary malignant neoplasms]. Zhonghua yi xue za zhi 2023 12 103 (47): 3848-3851. P J Shi, Y B Li, H P Xi |
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities. Gene 2023 10 892 147881. Z Spurná, P ?apková, L Punová, J DuchoslavovÁ, D Aleksijevic, P Venhá?ová, J Srovnal, J Štellmachová, V Curtisová, V Bitnerová, J Pet?ková, K Kola?íková, M Janíková, R Kratochvílová, P Vrt?l, R Vodi?ka, R Vrt?l, J Zapletalo |
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association 2024 1 13 (3): e031377. Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Clifton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Koz |
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