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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Genetic Selection Pressure on TLR9 Gene Increases Individual Susceptibility to Systemic Inflammatory Disease: A Case Study of Kano State Population by Yusuf Jibril Habib, Mohammed Sani Jaafaru

“…This is thought to be the outcome of interactions among genetic factors and the terrain. Systemic lupus erythematosus (SLE) and other autoimmune disorders have been linked to this genetic plasticity. …”
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Comparison of differences in transcriptional and genetic profiles between intra-central nervous system and extra-central nervous system large B-cell lymphoma by Shu Wang, Hong Chen, Bo Dai, Kang Zheng, Jiajun Zheng, Yuqi Zhu, Yan Yuan, Tianling Ding, Qian Wang, Liqian Xie, Rui Feng, Fengping Zhu, Jianbin Xiang, Weiqun Ding, Hong Ding, Yuan Li, Xiaodong Gu, Kunpeng Wu, Yifan Yuan, Jianping Song, Dongxiao Zhuang, Haoshu Zhong, Hanfeng Wu, Ying Mao, Tong Chen

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Melasma management: Unveiling recent breakthroughs through literature analysis by Darshan Kumar R, Richa Sood, Prashant Tiwari

“…Melasma is a prevalent acquired hyperpigmentation disorder characterized by irregular brownish patches on areas of the skin frequently exposed to sunlight. …”
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Alu insertion polymorphisms and susceptibility to metabolic syndrome in a Moroccan population by Hamid Farhane, Majida Motrane, Karchali Soufaine, Fatima-Ezzahra Anaibar, Aïcha Motrane, Said Nassor Abeid, Abderraouf Hilali, Nourdin Harich

“…Abstract Background Metabolic syndrome (MetS) is a multifaceted disorder that significantly elevates the cardiovascular disease risk. …”
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Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV by Eojin Lee, Ja Young Choi, Shin-Seung Yang

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Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis by Fiona Whitaker, Alvaro Serrano

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Association of fatty acid desaturase 2 gene polymorphism (rs28456) with susceptibility to bipolar disorder in the Turkish population: A case-control study by Pirim Dilek, Gümüş Ceren, Boztepe Esra, Akdağ Emine Merve, Şirin Hande

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Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis by Min Zhang, Wenting Su, Jiahui Deng, Bin Zhai, Gaizhi Zhu, Ran Gao, Qi Zeng, Jinming Qiu, Ziqing Bian, He Xiao, Guoming Luan, Renxi Wang

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Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two... by Akif AYAZ, Alper GEZDIRICI, Elif YILMAZ GULEC, Özge OZALP, Abdullah Huseyin KOSEOGLU, Zeynep DOGRU, Sinem YALCINTEPE

“…Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some potential candidate genes for autism. …”
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Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series by Yuan Ding, Yuan Ding, Ming Cheng, Ming Cheng, Bingyan Cao, Bingyan Cao, Min Liu, Min Liu, Xuyun Hu, Xuyun Hu, Di Wu, Di Wu, Di Wu

“…BackgroundApparent Mineralocorticoid Excess (AME) is a rare autosomal recessive disorder, characterized by a notably complex diagnostic process. …”
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Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C ty... by Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou

“…This case illustrates the importance of early diagnosis of cobalamin metabolism disorders by prescribing adequate biochemical tests.…”
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A narrative review about cognitive impairment in Metabolic Dysfunction–Associated Steatotic Liver Disease (MASLD): Another matter to face through a holistic approach by Marica Meroni, Miriam Longo, Erika Paolini, Paola Dongiovanni

“…Chronic systemic inflammation, hyperammonemia, genetic background and intestinal dysbiosis possibly contribute to the cognitive decline in MASLD patients. …”
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Transcription factor TCF4: structure, function, and associated diseases by R. R. Savchenko, N. A. Skryabin

“…Pathogenic variants in this gene have been linked to a rare genetic disorder, Pitt–Hopkins syndrome, and TCF4 polymorphic variants are associated with several socially significant diseases, including various psychiatric disorders. …”
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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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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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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

“…Such precise genetic diagnoses hold significant potential for improving patient care and management.…”
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Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis by Yossawat Suwanlikit, Bhakbhoom Panthan, Pawares Chitayanan, Sommon Klumsathian, Angkana Charoenyingwattana, Wasun Chantratita, Objoon Trachoo

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Jacobsen syndrome associated with Shone’s complex: a case report by Andressa Brum, Larissa Valéria Laskoski, Fabiana Gonçalves de Oliveira Azevedo Matos, Luciana Paula Grégio d’Arce

“…ABSTRACT Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder. Case description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. …”
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Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy by Yan Qin, Xiao-Jing Sun, Yi-Fang Hu, Meng Jing, Xiao-Juan Yu, Ming-Hui Zhao, Ying Tan

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