A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant by Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi

“…Human Genome Variation…”
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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia by Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto

“…Human Genome Variation…”
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Association of novel ERLIN2 gene variants with hereditary spastic paraplegia by R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. S. Yamanaka, J. Piqueras Flores, J. M. Flores Barragán, E. Buces González, J. D. Arroyo Andújar

“…Human Genome Variation…”
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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

“…Human Genome Variation…”
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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant by Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

“…Human Genome Variation…”
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Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

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Knockout of <i>dhx38</i> Causes Inner Ear Developmental Defects in Zebrafish by Mengmeng Ren, Xiang Chen, Liyan Dai, Jiayi Tu, Hualei Hu, Xiaohan Sun, Jiong Luo, Pei Li, Yiyang Fu, Yuejie Zhu, Weiqiang Sun, Zhaohui Tang, Mugen Liu, Xiang Ren, Qunwei Lu

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Optimized methods for scRNA-seq and snRNA-seq of skeletal muscle stored in nucleic acid stabilizing preservative by Elisabeth F. Heuston, Ayo P. Doumatey, Faiza Naz, Shamima Islam, Stacie Anderson, Martha R. Kirby, Stephen Wincovitch, Stefania Dell’Orso, Charles N. Rotimi, Adebowale A. Adeyemo

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I’ll Show You Mine, If You Show Me Yours

“…The human genome dominated science news last week. Both Science and Nature lead this week with articles about the simultaneous publication of the human genome sequence by the private company Celera Genomics and the publicly funded Human Genome Project (HGP).…”
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Muscle Satellite Cells: Exploring the Basic Biology to Rule Them by Camila F. Almeida, Stephanie A. Fernandes, Antonio F. Ribeiro Junior, Oswaldo Keith Okamoto, Mariz Vainzof

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Variation in APOL1 Contributes to Ancestry-Level Differences in HDLc-Kidney Function Association by Amy Rebecca Bentley, Ayo P. Doumatey, Guanjie Chen, Hanxia Huang, Jie Zhou, Daniel Shriner, CongQing Jiang, Zhenjian Zhang, Guozheng Liu, Olufemi Fasanmade, Thomas Johnson, Johnnie Oli, Godfrey Okafor, Benjamin A. Eghan, Kofi Agyenim-Boateng, Jokotade Adeleye, Williams Balogun, Clement Adebamowo, Albert Amoah, Joseph Acheampong, Adebowale Adeyemo, Charles N. Rotimi

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Efficiency of Polyphenol Extraction from Artificial Honey Using C18 Cartridges and Amberlite® XAD-2 Resin: A Comparative Study by Chua Yung An, Md. Murad Hossain, Fahmida Alam, Md. Asiful Islam, Md. Ibrahim Khalil, Nadia Alam, Siew Hua Gan

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Human Mesenchymal Stromal Cells Transplantation May Enhance or Inhibit 4T1 Murine Breast Adenocarcinoma through Different Approaches by T. Jazedje, A. L. Ribeiro, M. Pellati, H. M. de Siqueira Bueno, G. Nagata, M. Trierveiler, E. G. Rodrigues, M. Zatz

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CGH, cDNA and Tissue Microarray Analyses Implicate FGFR2 Amplification in a Small Subset of Breast Tumors by Mervi Heiskanen, Juha Kononen, Maarit Bärlund, Joachim Torhorst, Guido Sauter, Anne Kallioniemi, Olli Kallioniemi

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Human microbiome, applied to clinical practice by V. T. Ivashkin, K. V. Ivashkin

“…The Human microbiome project was designed for identification and characterization of set of human microorganisms as well as for studying the changes in the human health due to microbiome changes. The Human Genome Project assumes: development of the human genome variations database (HapMap; Human Variome Project), interpretation of human phenotype differences (Encyclopedia Of DNA Elements), modeling of human phenomenon (RECON), interpretation of epigenetic variants and hereditary changes in phenotypical manifestations. …”
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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain by Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg

“…CNVs represent a significant source of genetic variation in the human genome and have been implicated in several disorders and complex traits, representing a potential mechanism that contributes to neuronal diversity and the etiology of several neurological diseases and provides new insights into the normal, complex functions of the brain. …”
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A dual role of Cohesin in DNA DSB repair by Michael Fedkenheuer, Yafang Shang, Seolkyoung Jung, Kevin Fedkenheuer, Solji Park, Davide Mazza, Robin Sebastian, Hiroyuki Nagashima, Dali Zong, Hua Tan, Sushil Kumar Jaiswal, Haiqing Fu, Anthony Cruz, Supriya V. Vartak, Jan Wisniewski, Vittorio Sartorelli, John J. O’Shea, Laura Elnitski, Andre Nussenzweig, Mirit I. Aladjem, Fei-Long Meng, Rafael Casellas

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The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases by Selvam Ayarpadikannan, Heui-Soo Kim

“…Approximately 45% of the human genome is comprised of transposable elements (TEs). …”
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Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design by Rita CCS. Santos, Larissa FCDMS. Lima, Pâmela V. Andrade, Joilson M. Santos, Leonardo Galleni, Antonio FR. Junior, Lucas S. Souza, Beny Schmidt, Acary SB. Oliveira, José LG. Amaral, Mariz Vainzof, Helga CA. Silva

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STAIG: Spatial transcriptomics analysis via image-aided graph contrastive learning for domain exploration and alignment-free integration by Yitao Yang, Yang Cui, Xin Zeng, Yubo Zhang, Martin Loza, Sung-Joon Park, Kenta Nakai

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