Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report
Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the sk... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 24, 2024 Category: Genetics & Stem Cells Authors: Yuanyuan Li, Yuxue Chen, Yang Sun, Shouxin Li, Lingli Dong, Zongzhe Li and Guifen Shen Tags: Case Report Source Type: research
Influence of pharmacogenomic polymorphisms on allopurinol-induced cutaneous adverse drug reactions in Thai patients
Allopurinol has been causing substantial morbidity and mortality particularly in Asian population by producing cutaneous adverse drug reactions (cADRs). Nonetheless, there are no data describing whether other ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 23, 2024 Category: Genetics & Stem Cells Authors: Gaidganok Sornsamdang, Patompong Satapornpong, Pimonpan Jinda, Thawinee Jantararoungtong, Napatrupron Koomdee, Therdpong Tempark, Jettanong Klaewsongkram, Ticha Rerkpattanapipat, Pawinee Rerknimitr, Papapit Tuchinda, Leena Chularojanamontri, Napatra Tovan Tags: Research Source Type: research
Blood cell parameters and risk of nonalcoholic fatty liver disease: a comprehensive Mendelian randomization study
Nonalcoholic fatty liver disease (NAFLD) is on the rise globally, and past research suggests a significant association with various blood cell components. Our goal is to explore the potential correlation betwe... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 23, 2024 Category: Genetics & Stem Cells Authors: Nan Zhu, Xiaoliang Wang, Huiting Zhu and Yue Zheng Tags: Research Source Type: research
Identification and validation of a novel predictive signature based on hepatocyte-specific genes in hepatocellular carcinoma by integrated analysis of single-cell and bulk RNA sequencing
Hepatocellular carcinoma represents a significant global burden in terms of cancer-related mortality, posing a substantial risk to human health. Despite the availability of various treatment modalities, the ov... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 23, 2024 Category: Genetics & Stem Cells Authors: Yujian He, Wei Qi, Xiaoli Xie and Huiqing Jiang Tags: Research Source Type: research
Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma
In this study, single-cell transcriptome sequencing ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Fang Fu, Xin Yang, Ru Li, Yingsi Li, Hang Zhou, Ken Cheng, Ruibin Huang, You Wang, Fei Guo, Lina Zhang, Min Pan, Jin Han, Li Zhen, Lushan Li, Tingying Lei, Dongzhi Li & hellip; Tags: Research Source Type: research
Analysis of cancer-associated fibroblasts related genes identifies COL11A1 associated with lung adenocarcinoma prognosis
This study aimed to identify a prom... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Haosheng Zheng, Jian Tan, Fei Qin, Yuzhen Zheng, Xingping Yang, Xianyu Qin and Hongying Liao Tags: Research Source Type: research
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing
Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic bac... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Anett Ill és, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos and Artúr Beke Tags: Research Source Type: research
Identification of osteoporosis ferroptosis-related markers and potential therapeutic compounds based on bioinformatics methods and molecular docking technology
Osteoporosis (OP) is one of the most common bone diseases worldwide, characterized by low bone mineral density and susceptibility to pathological fractures, especially in postmenopausal women and elderly men. ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Shi-Wei Long, Shi-Hong Li, Jian Li, Yang He, Bo Tan, Hao-Han Jing, Wei Zheng and Juan Wu Tags: Research Source Type: research
A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presen... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 22, 2024 Category: Genetics & Stem Cells Authors: Giorgio Placidi, Elena D ’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi and Benedetto Falsini Tags: Case Report Source Type: research
A novel variant in NSUN2 causes intellectual disability in a Chinese family
NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardati... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 20, 2024 Category: Genetics & Stem Cells Authors: Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi and Jingsi Luo Tags: Research Source Type: research
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
In this study, we describe a case with optic atrophy and a brain aneurysm, in ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 19, 2024 Category: Genetics & Stem Cells Authors: Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao and Nan-Kai Wang Tags: Case Report Source Type: research
Revealing Prdx4 as a potential diagnostic and therapeutic target for acute pancreatitis based on machine learning analysis
Acute pancreatitis (AP) is a common systemic inflammatory disease resulting from the activation of trypsinogen by various incentives in ICU. The annual incidence rate is approximately 30 out of 100,000. Some p... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 19, 2024 Category: Genetics & Stem Cells Authors: Zhonghua Lu, Yan Tang, Ruxue Qin, Ziyu Han, Hu Chen, Lijun Cao, Pinjie Zhang, Xiang Yang, Weili Yu, Na Cheng and Yun Sun Tags: Research Source Type: research
Analysis of REST binding sites with canonical and non-canonical motifs in human cell lines
Repressor element 1 (RE1) silencing transcription factor (REST) is a transcriptional repressor abundantly expressed in aging human brains. It is known to regulate genes associated with oxidative stress, inflam... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 17, 2024 Category: Genetics & Stem Cells Authors: Jaejoon Choi and Eunjung Alice Lee Tags: Research Source Type: research
Retraction Note: LncRNA PTCSC3 is upregulated in osteoporosis and negatively regulates osteoblast apoptosis
(Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 17, 2024 Category: Genetics & Stem Cells Authors: Xingchao Liu, Mingliang Chen, Qinghe Liu, Gang Li, Pei Yang and Guodong Zhang Tags: Retraction Note Source Type: research
Adherence to the Mediterranean diet can beneficially affect the gut microbiota composition: a systematic review
Dietary patterns could have a notable role in shaping gut microbiota composition. Evidence confirms the positive impact of the Mediterranean diet (MD), as one of the most studied healthy dietary patterns, on t... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - April 17, 2024 Category: Genetics & Stem Cells Authors: Armin Khavandegar, Ali Heidarzadeh, Pooneh Angoorani, Shirin Hasani-Ranjbar, Hanieh-Sadat Ejtahed, Bagher Larijani and Mostafa Qorbani Tags: Systematic Review Source Type: research
