Genetic and pharmacological targeting of HINT2 promotes OXPHOS to alleviate inflammatory responses and cell necrosis in acute pancreatitis by Jiaqi Yao, Yuhong Jiang, Pengcheng Zhang, Yifan Miao, Xiajia Wu, Hang Lei, Zhijun Xie, Yong Tian, Xianlin Zhao, Juan Li, Lv Zhu, Meihua Wan, Wenfu Tang

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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…Our in vitro functional and computer simulation findings revealed that this variant was associated with haploinsufficiency, which resulted in dramatically reducing the formation of IVD protein due to unstable mutant protein and not a lack of mRNA expression.ConclusionThe boy was diagnosed with the dual genetic disorders of Prader–Willi syndrome and isovaleric acidemia. …”
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Correlation of Vitamin B12 Levels with Clinical and Laboratory Features in Patients of Dengue Fever by Asma Abdul Razzak

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An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes by Lauren Boucher, Berkley Nestler, Daniel Groepper, John Quillin, David Deyle, Colin M.E. Halverson

“…Purpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. …”
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RNA editing-based biomarker blood test for the diagnosis of bipolar disorder: protocol of the EDIT-B study by Andrea Miranda-Mendizabal, Diana Vetter, Juan Zambrano, Jeff Zarp, Victor Chavarría, Anna Giménez-Palomo, Meritxell Gonzalez-Campos, Marc Valenti, Lara Walczer Baldinazzo, Sara Siddi, Maurizio Ferrari, Dinah Weissmann, Chantal Henry, Josep Maria Haro, Lars Vedel Kessing, Eduard Vieta

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Genetic Associations Between Specific Sleep-Related Phenotypes and Idiopathic Sudden Sensorineural Hearing Loss: A Mendelian Randomization Analysis by Li M, He J, Liang Y, Zou F, Gou C, Lv J, Zhang X, Li D, Yu Z

“…There were no evidence indicating a potential causal effect of insomnia, sleep duration, sleep disorders, sleep apnoea, and on the risk of ISSHNL. …”
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EGCG improve meat quality, restore lipid metabolism disorder and regulate intestinal flora in high-fat fed broilers by Lujia Gao, Chen Liu, Jiaqi Wu, Ying Cui, Man Zhang, Chongpeng Bi, Anshan Shan, Xiujing Dou

“…Excessive oil addition can easily result in decreased disease resistance in broilers, a drop in meat quality, and disorders of glucose and lipid metabolism. Epigallocatechin gallate (EGCG) is an important bioactive component of tea and has been shown to have promising effects on the metabolism of nutrients. …”
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Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control studyResearch in context by Amazigh Mokhtari, El Chérif Ibrahim, Arnaud Gloaguen, Claire-Cécile Barrot, David Cohen, Margot Derouin, Hortense Vachon, Guillaume Charbonnier, Béatrice Loriod, Charles Decraene, Ipek Yalcin, Cynthia Marie-Claire, Bruno Etain, Raoul Belzeaux, Andrée Delahaye-Duriez, Pierre-Eric Lutz

“…Summary: Background: Major depressive disorder (MDD) is a leading cause of disability, with a twofold increase in prevalence in women compared to men. …”
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Genome data based deep learning identified new genes predicting pharmacological treatment response of attention deficit hyperactivity disorder by Yilu Zhao, Zhao Fu, Eric J. Barnett, Ning Wang, Kangfuxi Zhang, Xuping Gao, Xiangyu Zheng, Junbin Tian, Hui Zhang, XueTong Ding, Shaoxian Li, Shuyu Li, Qingjiu Cao, Suhua Chang, Yufeng Wang, Stephen V. Faraone, Li Yang

“…Abstract Although the efficacy of pharmacy in the treatment of attention deficit/hyperactivity disorder (ADHD) has been well established, the lack of predictors of treatment response poses great challenges for personalized treatment. …”
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Study on clinically manifested reproductive health problems of dairy cows managed under intensive and semi-intensive production systems in Wondo Genet district, Southern Ethiopia by Amene Fekadu, Yifat Denbarga, Tesfaye Belay, Desie Sheferaw, Fufa Abunna, Kebede Amenu, Rahmeto Abebe, Mesele Abera, Berhanu Mekibib

“…The study was conducted to identify and estimate the prevalence of clinically manifested postpartum reproductive disorders, to identify the associated risk factors and to estimate the sero-prevalence of brucellosis in dairy cows kept under intensive and semi-intensive dairy farms in Wondo Genet district from November 2019 to September 2020. …”
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A study of serum brain-derived neurotrophic factor level in individuals with obsessive compulsive disorder and their first-degree relatives as compared to the healthy population by Shaily Mina, Rupam Dhiman, Prakamya Singal, Sukanya Gangopadhyay, Pankaj Verma, Shivani Kathuria

“…Background: The nosological tradition in psychiatry defines diagnostic criteria for disorders based on expert consensus than objective biological markers reflecting underlying neurobiological correlates. …”
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Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study by Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek

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Editorial: Cellular and molecular mechanisms that govern assembly, plasticity, and function of GABAergic inhibitory circuits in the mammalian brain by Yasufumi Hayano, Yasufumi Hayano, Goichi Miyoshi, Anirban Paul, Hiroki Taniguchi, Hiroki Taniguchi

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Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectom... by Hai Le, Daphna Fenchel, Konstantina Dimitrakopoulou, Hamel Patel, Charles Curtis, Lucilio Cordero-Grande, A. David Edwards, Joseph Hajnal, Jacques-Donald Tournier, Maria Deprez, Harriet Cullen

“…Abstract Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. …”
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Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report by Anjuman Ara Rahman, Abhijit Datta, Kamal Uddin Ahmed, Anindita Das Barshan, Mohammad Jahid Hasan

“…Moreover, her family received genetic counseling, and she was scheduled for regular follow-up. …”
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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

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The intestinal microbiome as a separate organ by Yu. O. Shulpekova

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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In vitro micropropagation protocols for two endangered Dianthus species - via in vitro culture for conservation and recultivation purposes by Dóra Farkas, Judit Csabai, Angéla Kolesnyk, Pál Szarvas, Judit Dobránszki

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Prenatal Diagnosis of Zellweger Syndrome: Case Report by Bilgin Kütükcü, Meral Topçu, Sinan Beksaç, Ronald J. Wanders

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