Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma by Minh-Khang Le, Masataka Kawai, Kenta Masui, Takashi Komori, Takakazu Kawamata, Yoshihiro Muragaki, Tomohiro Inoue, Ippei Tahara, Kazunari Kasai, Tetsuo Kondo

“…Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: <i>IDH1/2</i>, <i>ATRX</i>, <i>TP53</i> mutations, <i>TERT</i> promoter mutations, <i>CDKN2A/B</i> homozygous deletion (CHD), <i>EGFR</i> amplification (<i>EGFR</i>amp), 7 gain/10 loss (7+/10−), 1p/19q co-deletion, and <i>MGMT</i> promoter methylation. …”
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Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant by Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata

“…We previously identified a homozygous DSG2 p.Arg119Ter stop-gain variant in a patient with juvenile-onset cardiomyopathy and advanced biventricular heart failure. …”
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Genetic-epigenetic aspects of infertility in women with long-COVID-19 by O.G. Boichuk, I.S. Golovchak, T.V. Kolomiichenko

“…Patients of the main group have a higher frequency of the homozygous genotype of the MTHFR gene polymorphism (C677T) on the mutant T allele (20.0% vs. 3.2%; p<0.05). …”
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Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis by U. Gomez-Pinedo, J.A. Matías-Guiu, L. Torre-Fuentes, P. Montero-Escribano, L. Hernández-Lorenzo, V. Pytel, P. Maietta, S. Alvarez, I. Sanclemente-Alamán, L. Moreno-Jimenez, D. Ojeda-Hernandez, N. Villar-Gómez, M.S. Benito-Martin, B. Selma-Calvo, L. Vidorreta-Ballesteros, R. Madrid, J. Matías-Guiu

“…The 2 patients with MS and variant rs4149584 were homozygous carriers and belonged to the same family, whereas the remaining individuals presented the variant in heterozygosis. …”
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Variant rs4149584 (R92Q) of the TNFRSF1A gene in patients with familial multiple sclerosis by U. Gomez-Pinedo, J.A. Matías-Guiu, L. Torre-Fuentes, P. Montero-Escribano, L. Hernández-Lorenzo, V. Pytel, P. Maietta, S. Alvarez, I. Sanclemente-Alamán, L. Moreno-Jimenez, D. Ojeda-Hernandez, N. Villar-Gómez, M.S. Benito-Martin, B. Selma-Calvo, L. Vidorreta-Ballesteros, R. Madrid, J. Matías-Guiu

“…The 2 patients with MS and variant rs4149584 were homozygous carriers and belonged to the same family, whereas the remaining individuals presented the variant in heterozygosis. …”
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Exploring the Role of C-C Motif Chemokine Ligand-2 Single Nucleotide Polymorphism in Pulmonary Tuberculosis: A Genetic Association Study from North India by Sanjay K. Biswas, Mayank Mittal, Ekata Sinha, Vandana Singh, Nidhi Arela, Bharat Bajaj, Pramod K. Tiwari, Vishwa M. Katoch, Keshar K. Mohanty

“…Our analysis indicated that the homozygous mutant in both -2518 GG (OR=2.07, p=0.02) and -362 CC (OR=1.92, p=0.03) genotypes was associated with susceptibility to pulmonary TB. …”
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Generation and propagation of high fecundity gene edited fine wool sheep by CRISPR/Cas9 by Xuemei Zhang, Meiyu Qiu, Bing Han, Li Liao, Xinrong Peng, Jiapeng Lin, Ning Zhang, Lati Hai, Long Liang, Yila Ma, Wenrong Li, Mingjun Liu

“…Based on the six targeted founders (F0), we expanded the BMPRIB-targeted population, which included F1 heterozygous (B+) and F2 homozygous(BB) or heterozygous offspring. The average litter size of F1 ewes carrying the B + allele reached 170%, comparable to that of heterozygous native Australian Booroola sheep. …”
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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopa... by Sorina Boiu, Nikolaos Paschalidis, George Sentis, Theodora Manolakou, Andrianos Nezos, Manolis Gialitakis, Maria Grigoriou, Erato Atsali, Melpomeni Giorgi, Argirios Ntinopoulos, Clio Mavragani, Periklis Makrythanasis, Dimitrios T. Boumpas, Aggelos Banos

“…Results Next generation exome sequencing confirmed a homozygous SAMHD1 gene mutation and a hemizygous non-synonymous mutation on SMC1A gene, responsible for the AGS and CdLS, respectively. …”
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The AMD-associated genetic polymorphism CFH Y402H confers vulnerability to Hydroquinone-induced stress in iPSC-RPE cells by Angela Armento, Inga Sonntag, Ana-Cristina Almansa-Garcia, Merve Sen, Sylvia Bolz, Blanca Arango-Gonzalez, Ellen Kilger, Ruchi Sharma, Kapil Bharti, Rosario Fernandez-Godino, Berta de la Cerda, Simon J. Clark, Simon J. Clark, Simon J. Clark, Marius Ueffing

“…In our study, we examined the cell characteristics of the retinal pigment epithelium (RPE) cells, which play a major role in retinal homeostasis and stability and which are synonymously linked to AMD.MethodsHere, we employ RPE cells derived from induced pluripotent stem cells (iPSC) generated from donors, carrying either homozygous 402Y (low risk) or 402H (high risk) variants of the CFH gene. …”
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IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice by Tingwenyi Hu, Xiangrong Tang, Tiechao Ruan, Shunhua Long, Guicen Liu, Jing Ma, Xueqi Li, Ruoxuan Zhang, Guoning Huang, Ying Shen, Tingting Lin

“…Results We identified a novel homozygous IQUB mutation [c.842del (p.L281Pfs*28)] in an ASZ male with normal sperm morphology (ANM), which resulted in the complete loss of IQUB in sperm flagella. …”
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Increased susceptibility to diet-induced obesity in female mice impairs ovarian steroidogenesis: The role of elevated leptin signalling on nodal activity inhibition in theca cells by Karolina Wołodko, Tjaša Šentjurc, Edyta Walewska, Elżbieta Laniecka, Magdalena Jura, António Galvão

“…To investigate the contrasting effects of leptin on ovarian steroidogenesis, B6 mice pharmacologically treated with leptin for 16 days on CD were used to model hyperleptinemia, while homozygous ob/ob (−/−) mice with genetic leptin deficiency, also on a CD, were used to examine the effects of obesity in the absence of leptin. …”
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter by Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk

“…Notably, previous studies demonstrated osteopenia and male‐specific cardiac death in mice lacking the ZnT5/SLC30A5 zinc transporter, and suggested association of two homozygous frameshift SLC30A5 variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy. …”
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Nucleotide variation in Foxp3 gene and prognosis of bladder cancer: a case-control study by Qin Li, Yan Zhang, Yan Zhang, Min Su, Yaping Song, Yanyun Wang, Bin Zhou, Lin Zhang

“…Notably, individuals who were homozygous for the AA genotype demonstrated a markedly lower overall survival (OS) rate compared to those with the CC/CA genotypes (P = 0.03, OR = 5.89, 95%CI = 1.23-28.15), after adjusting for factors such as age, gender, smoking status, tumor grade, metastasis, and clinical stage. …”
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Flow Cytometric Assessment of FcγRIIIa-V158F Polymorphisms and NK Cell Mediated ADCC Revealed Reduced NK Cell Functionality in Colorectal Cancer Patients by Phillip Schiele, Stefan Kolling, Stanislav Rosnev, Charlotte Junkuhn, Anna Luzie Walter, Jobst Christian von Einem, Sebastian Stintzing, Wenzel Schöning, Igor Maximilian Sauer, Dominik Paul Modest, Kathrin Heinrich, Lena Weiss, Volker Heinemann, Lars Bullinger, Marco Frentsch, Il-Kang Na

“…The machine learning model accurately predicted the FcγRIIIa-V158F polymorphism in 94% of samples. FF homozygous patients showed diminished cetuximab-mediated ADCC compared to VF or VV carriers. …”
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LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan by Rauan Kaiyrzhanov, Akbota Aitkulova, Chingiz Shashkin, Nazira Zharkinbekova, Mie Rizig, Elena Zholdybayeva, Zharkyn Jarmukhanov, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Talgat Khaibullin, Altynay Karimova, Serik Akshulakov, Askhat Bralov, Nurlan Kissamedenov, Zhanar Seidinova, Anjela Taskinbayeva, Aliya Muratbaikyzy, Henry Houlden

“…One early-onset PD subject was homozygous for p.Ala419Val who developed fast progression and severe dyskinesias. p.Ala419Val was associated with early-onset PD. …”
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Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma by Li Yan, Qianchuan He, Shiv P. Verma, Xu Zhang, Ann-Sophie Giel, Carlo Maj, Kathryn Graz, Elnaz Naderi, Jianhong Chen, Mourad Wagdy Ali, Puya Gharahkhani, Xiang Shu, Kenneth Offit, Pari M. Shah, Hans Gerdes, Daniela Molena, Amitabh Srivastava, Stuart MacGregor, Claire Palles, René Thieme, Michael Vieth, Ines Gockel, Thomas L. Vaughan, Johannes Schumacher, Matthew F. Buas

“…The strongest evidence for secondary replication was for rs17744726×rs3217992 among males, with consistent directionality across all cohorts (Pmeta = 2.19 × 10−8); rs3217992 “T” was associated with reduced risk only in individuals homozygous for rs17744726 “G.” Rs3217992 maps to the CDKN2B 3′ UTR and reportedly disrupts microRNA-mediated repression. …”
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MAM‐STAT3‐Driven Mitochondrial Ca+2 Upregulation Contributes to Immunosenescence in Type A Mandibuloacral Dysplasia Patients by Arshad Ahmed Padhiar, Xiaohong Yang, Syed Aqib Ali Zaidi, Zhu Li, Jinqi Liao, Wei Shu, Arif Ali Chishti, Liangge He, Gulzar Alam, Abdullah Faqeer, Ilyas Ali, Shuai Zhang, Ting Wang, Tao Liu, Meiling Zhou, Gang Wang, Yan Zhou, Guangqian Zhou

“…Abstract Individuals with homozygous laminA/C p.R527C mutations manifest a severe form of Mandibuloacral dysplasia‐(MAD) and exhibit overlapping progeroid symptoms, for which the underlying molecular pathology remains unknown. …”
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Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

“…Burdenko National Medical Research Center of Neurosurgery, Moscow, Russian <br> Federation</b> </p> <p> <b>⁶Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation</b> </p> <p> <b>⁷Center for Genetics and Reproductive Medicine “Genetiko”, Moscow, Russian <br> Federation</b> </p> <p> <b>⁸Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India</b> </p> <p> <b>⁹ Non-profit partnership International Scientific and Practical Center for the Proliferation <br> of Tissues of Russia, Moscow, Russian Federation</b> </p> <p> <b>¹⁰Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <i>The article describes the clinical case of optic atrophy due to a homozygous mutation in exon 3 of the C19orf12 gene (chr19: 30193863AACAGCCCCCCG&gt; A, rs515726204), the frequency of which in the ExAC control sample is 0.0074. …”
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