Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: SMAD6[original query] |
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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature neuroscience 2016 Aug . Lelieveld Stefan H, Reijnders Margot R F, Pfundt Rolph, Yntema Helger G, Kamsteeg Erik-Jan, de Vries Petra, de Vries Bert B A, Willemsen Marjolein H, Kleefstra Tjitske, Löhner Katharina, Vreeburg Maaike, Stevens Servi J C, van der Burgt Ineke, Bongers Ernie M H F, Stegmann Alexander P A, Rump Patrick, Rinne Tuula, Nelen Marcel R, Veltman Joris A, Vissers Lisenka E L M, Brunner Han G, Gilissen Christi |
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. eLife 2016 Sep 5 . Timberlake Andrew T, Choi Jungmin, Zaidi Samir, Lu Qiongshi, Nelson-Williams Carol, Brooks Eric D, Bilguvar Kaya, Tikhonova Irina, Mane Shrikant, Yang Jenny F, Sawh-Martinez Rajendra, Persing Sarah, Zellner Elizabeth G, Loring Erin, Chuang Carolyn, Galm Amy, Hashim Peter W, Steinbacher Derek M, DiLuna Michael L, Duncan Charles C, Pelphrey Kevin A, Zhao Hongyu, Persing John A, Lifton Richard |
A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility. Blood 2017 Sep . Peckham-Gregory Erin C, Chakraborty Rikhia, Scheurer Michael E, Belmont John W, Abhyankar Harshal, Sengal Amel G, Scull Brooks P, Eckstein Olive, Zinn Daniel J, Mayer Louisa, Shih Albert, Merad Miriam, Parsons D Williams, McClain Kenneth L, Lupo Philip J, Allen Carl |
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America 2017 8 114 (35): E7341-E7347. Timberlake Andrew T, Furey Charuta G, Choi Jungmin, Nelson-Williams Carol, , Loring Erin, Galm Amy, Kahle Kristopher T, Steinbacher Derek M, Larysz Dawid, Persing John A, Lifton Richard |
Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve. International journal of cardiology 2017 Nov . Lin Xiaoping, Liu Xianbao, Wang Lihan, Jiang Jubo, Sun Yinghao, Zhu Qifeng, Chen Zexin, He Yuxin, Hu Po, Xu Qiyuan, Gao Feng, Lin Yan, Jaiswal Sanjay, Xiang Meixiang, Wang Jian' |
Trio, a novel high fecundity allele: I. Transcriptome analysis of granulosa cells from carriers and noncarriers of a major gene for bovine ovulation rate. Biology of reproduction 2017 11 98 (3): 323-334. Kamalludin Mamat H, Garcia-Guerra Alvaro, Wiltbank Milo C, Kirkpatrick Brian |
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. Frontiers in physiology 2017 10 8 730. Gillis Elisabeth, Kumar Ajay A, Luyckx Ilse, Preuss Christoph, Cannaerts Elyssa, van de Beek Gerarda, Wieschendorf Björn, Alaerts Maaike, Bolar Nikhita, Vandeweyer Geert, Meester Josephina, Wünnemann Florian, Gould Russell A, Zhurayev Rustam, Zerbino Dmytro, Mohamed Salah A, Mital Seema, Mertens Luc, Björck Hanna M, Franco-Cereceda Anders, McCallion Andrew S, Van Laer Lut, Verhagen Judith M A, van de Laar Ingrid M B H, Wessels Marja W, Messas Emmanuel, Goudot Guillaume, Nemcikova Michaela, Krebsova Alice, Kempers Marlies, Salemink Simone, Duijnhouwer Toon, Jeunemaitre Xavier, Albuisson Juliette, Eriksson Per, Andelfinger Gregor, Dietz Harry C, Verstraeten Aline, Loeys Bart L, |
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. Human genome variation 2018 7 5 14. Timberlake Andrew T, Wu Robin, Nelson-Williams Carol, Furey Charuta G, Hildebrand Kristi I, Elton Scott W, Wood Jeyhan S, Persing John A, Lifton Richard |
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nature genetics 2018 11 51 (1): 42-50. Gould Russell A, Aziz Hamza, Woods Courtney E, Seman-Senderos Manuel Alejandro, Sparks Elizabeth, Preuss Christoph, Wünnemann Florian, Bedja Djahida, Moats Cassandra R, McClymont Sarah A, Rose Rebecca, Sobreira Nara, Ling Hua, MacCarrick Gretchen, Kumar Ajay Anand, Luyckx Ilse, Cannaerts Elyssa, Verstraeten Aline, Björk Hanna M, Lehsau Ann-Cathrin, Jaskula-Ranga Vinod, Lauridsen Henrik, Shah Asad A, Bennett Christopher L, Ellinor Patrick T, Lin Honghuang, Isselbacher Eric M, Lino Cardenas Christian Lacks, Butcher Jonathan T, Hughes G Chad, Lindsay Mark E, , , Mertens Luc, Franco-Cereceda Anders, Verhagen Judith M A, Wessels Marja, Mohamed Salah A, Eriksson Per, Mital Seema, Van Laer Lut, Loeys Bart L, Andelfinger Gregor, McCallion Andrew S, Dietz Harry |
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. Genetics in medicine : official journal of the American College of Medical Genetics 2019 May . Yang Yongjia, Zheng Yu, Li Wangming, Li Liping, Tu Ming, Zhao Liu, Mei Haibo, Zhu Guanghui, Zhu Yim |
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. Molecular genetics & genomic medicine 2019 3 7 (5): e620. Park Jong Eun, Park Jin Seok, Jang Shin Yi, Park Seok Hee, Kim Jong-Won, Ki Chang-Seok, Kim Duk-Kyu |
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. European journal of human genetics : EJHG 2019 2 27 (7): 1044-1053. Luyckx Ilse, MacCarrick Gretchen, Kempers Marlies, Meester Josephina, Geryl Céline, Rombouts Olivier, Peeters Nils, Claes Charlotte, Boeckx Nele, Sakalihasan Natzi, Jacquinet Adeline, Hoischen Alexander, Vandeweyer Geert, Van Lent Sarah, Saenen Johan, Van Craenenbroeck Emeline, Timmermans Janneke, Duijnhouwer Anthonie, Dietz Harry, Van Laer Lut, Loeys Bart, Verstraeten Ali |
SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis. Plastic and reconstructive surgery 2019 10 145 (1): 117e-125e. Wu Robin T, Timberlake Andrew T, Abraham Paul F, Gabrick Kyle S, Lu Xiaona, Peck Connor J, Sawh-Martinez Rajendra F, Steinbacher Derek M, Alperovich Michael A, Persing John |
The Relationship Between Single Nucleotide Polymorphisms of SMAD3/SMAD6 and Risk of Esophageal Squamous Cell Carcinoma in Chinese Population. Pharmacogenomics and personalized medicine 2020 9 13 355-363. Yu Jinjie, Dong Yunpeng, Tang Weifeng, Pan Huiwen, Lv Lu, Long Tao, Zhou Qiang, Qi Junqing, Liu Jianchao, Ding Guowen, Yin Jun, Tan Lij |
Genetics of renovascular hypertension in children. Journal of hypertension 2020 Oct 38 (10): 1964-1970. Viering Daan H H M, Chan Melanie M Y, Hoogenboom Lieke, Iancu Daniela, de Baaij Jeroen H F, Tullus Kjell, Kleta Robert, Bockenhauer Detl |
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. Molecular genetics & genomic medicine 2020 Aug e1406. Musfee Fadi I, Guo Dongchuan, Pinard Amélie C, Hostetler Ellen M, Blue Elizabeth E, Nickerson Deborah A, , Bamshad Michael J, Milewicz Dianna M, Prakash Siddharth |
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun . Calpena Eduardo, Cuellar Araceli, Bala Krithi, Swagemakers Sigrid M A, Koelling Nils, McGowan Simon J, Phipps Julie M, Balasubramanian Meena, Cunningham Michael L, Douzgou Sofia, Lattanzi Wanda, Morton Jenny E V, Shears Deborah, Weber Astrid, Wilson Louise C, Lord Helen, Lester Tracy, Johnson David, Wall Steven A, Twigg Stephen R F, Mathijssen Irene M J, Boardman-Pretty Freya, , Boyadjiev Simeon A, Wilkie Andrew O |
Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis. Journal of endodontics 2020 Nov . Küchler Erika Calvano, Hannegraf Natascha Douat, Lara Rafaela Mariana, Reis Caio Luiz Bitencourt, Oliveira Daniela Silva Barroso de, Mazzi-Chaves Jardel Francisco, Ribeiro Andrades Kesly Mary, Lima Lorena Ferreira de, Salles Alessandro Guimarães, Antunes Livia Azeredo Alves, Sousa-Neto Manoel Damião, Antunes Leonardo Santos, Baratto-Filho Flar |
Potential interactions among single nucleotide polymorphisms in bone- and cartilage-related genes in skeletal malocclusions. Orthodontics & craniofacial research 2020 Oct . Küchler Erika Calvano, Reis Caio Luiz Bitencourt, Carelli Julia, Scariot Rafaela, Nelson-Filho Paulo, Coletta Ricardo D, Paza Aleysson Olimpio, Matsumoto Mírian Aiko Nakane, Proff Peter, Kirschneck Christi |
Exploring the Association Between Genetic Polymorphisms in Genes Involved in Craniofacial Development and Isolated Tooth Agenesis. Frontiers in physiology 2021 9 12 723105. Küchler Erika Calvano, Reis Caio Luiz Bitencourt, Silva-Sousa Alice Corrêa, Marañón-Vásquez Guido Artemio, Matsumoto Mirian Aiko Nakane, Sebastiani Aline, Scariot Rafaela, Paddenberg Eva, Proff Peter, Kirschneck Christi |
Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China. American journal of translational research 2021 6 13 (5): 4281-4295. Li Ying, Fang Miaoxian, Yang Jue, Yu Changjiang, Kuang Juntao, Sun Tucheng, Fan Ruix |
Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans. Scientific reports 2021 6 11 (1): 12715. Silva-Sousa Alice Corrêa, Marañón-Vásquez Guido Artemio, Stuani Maria Bernadete Sasso, Proff Peter, Andrades Kesly Mary Ribeiro, Baratto-Filho Flares, Matsumoto Mírian Aiko Nakane, Paddenberg Eva, Küchler Erika Calvano, Kirschneck Christi |
Odontogenesis-related candidate genes involved in variations of permanent teeth size. Clinical oral investigations 2021 3 25 (7): 4481-4494. Gerber Jennifer Tsi, Dos Santos Katheleen Miranda, Brum Bruna Karas, Petinati Maria Fernanda Pivetta, Meger Michelle Nascimento, da Costa Delson João, Elsalanty Mohammed, Küchler Erika Calvano, Scariot Rafae |
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Nature communications 2021 (1): 1258. Gharahkhani Puya, Jorgenson Eric, Hysi Pirro, Khawaja Anthony P, Pendergrass Sarah, Han Xikun, Ong Jue Sheng, Hewitt Alex W, Segrè Ayellet V, Rouhana John M, Hamel Andrew R, Igo Robert P, Choquet Helene, Qassim Ayub, Josyula Navya S, Cooke Bailey Jessica N, Bonnemaijer Pieter W M, Iglesias Adriana, Siggs Owen M, Young Terri L, Vitart Veronique, Thiadens Alberta A H J, Karjalainen Juha, Uebe Steffen, Melles Ronald B, Nair K Saidas, Luben Robert, Simcoe Mark, Amersinghe Nishani, Cree Angela J, Hohn Rene, Poplawski Alicia, Chen Li Jia, Rong Shi-Song, Aung Tin, Vithana Eranga Nishanthie, , , , , , , , Tamiya Gen, Shiga Yukihiro, Yamamoto Masayuki, Nakazawa Toru, Currant Hannah, Birney Ewan, Wang Xin, Auton Adam, Lupton Michelle K, Martin Nicholas G, Ashaye Adeyinka, Olawoye Olusola, Williams Susan E, Akafo Stephen, Ramsay Michele, Hashimoto Kazuki, Kamatani Yoichiro, Akiyama Masato, Momozawa Yukihide, Foster Paul J, Khaw Peng T, Morgan James E, Strouthidis Nicholas G, Kraft Peter, Kang Jae H, Pang Chi Pui, Pasutto Francesca, Mitchell Paul, Lotery Andrew J, Palotie Aarno, van Duijn Cornelia, Haines Jonathan L, Hammond Chris, Pasquale Louis R, Klaver Caroline C W, Hauser Michael, Khor Chiea Chuen, Mackey David A, Kubo Michiaki, Cheng Ching-Yu, Craig Jamie E, MacGregor Stuart, Wiggs Janey |
Assessing the prevalence of S-shaped root canal and associated genes in humans. Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft 2022 Jul 244 151977. Küchler Erika Calvano, Stroparo Jeferson Luis de Oliveira, Matsumoto Mirian Nakane, Scariot Rafaela, Perin Camila Paiva, Roskamp Liliane, Menezes-Oliveira Maria Angélica Hueb de, Proff Peter, Kirschneck Christian, Baratto-Filho Flar |
Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis. Orphanet journal of rare diseases 2022 6 17 (1): 216. Zhang Wei, Li Yanmeng, Xu Anjian, Ouyang Qin, Wu Liyan, Zhou Donghu, Wu Lina, Zhang Bei, Zhao Xinyan, Wang Yu, Wang Xiaoming, Duan Weijia, Wang Qianyi, You Hong, Huang Jian, Ou Xiaojuan, Jia Jidong, |
Genetic Variants within NOGGIN, COL1A1, COL5A1, and IGF2 are Associated with Musculoskeletal Injuries in Elite Male Australian Football League Players: A Preliminary Study. Sports medicine - open 2022 10 8 (1): 126. Jacob Ysabel, Anderton Ryan S, Cochrane Wilkie Jodie L, Rogalski Brent, Laws Simon M, Jones Anthony, Spiteri Tania, Hince Dana, Hart Nicolas |
Association analyses of predicted loss-of-function variants prioritized 15 genes as blood pressure regulators. The Canadian journal of cardiology 2023 7 . Estelle Lecluze, Guillaume Lett |
Correlation between SMADs and Colorectal Cancer Expression, Prognosis, and Immune Infiltrates. International journal of analytical chemistry 2023 3 2023 8414040. Ding Ning, Luo Hongbiao, Zhang Tao, Peng Tianshu, Yao Yanru, He Yonghe |
Analysis of Rare Variants in 470,000 Exome-Sequenced UK Biobank Participants Implicates Novel Genes Affecting Risk of Hypertension. Pulse (Basel, Switzerland) 2023 12 11 (1): 9-16. David Curt |
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- Page last updated:Apr 22, 2024
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