Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review [0.03%]
ESAM相关紧密连接障碍的表型精化：新型基因和眼部发现及文献回顾
Mauro Lecca,Chiara Bosetti,Federico Ruoli et al.
Mauro Lecca et al.
Background: Endothelial cell-selective adhesion molecule (ESAM) is a tight junction protein essential for blood-brain barrier integrity and angiogenesis. Bi-allelic loss-of-function variants in ESAM cause NEDIHSS ("Neurod...
RETRACTION: LncRNA NEAT1/mir-185-5p/igf2 Axis Regulates the Invasion and Migration of Colon Cancer [0.03%]
撤稿：LncRNA NEAT1/mir-185-5p/igf2轴调节结肠癌侵袭和迁移
S. Zhuang, Y. Cai, H. Liu, Y. Qin, and J. Wen, "LncRNA NEAT1/mir-185-5p/igf2 Axis Regulates the Invasion and Migration of Colon Cancer," Molecular Genetics & Genomic Medicine 8, no. 4 (2020): e1125, https://doi.org/10.1002/mgg3.1125. The ab...
Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes [0.03%]
不同表型的母源性6号染色体同质异位嵌合胎儿的转录组分析
Jiahui Yu,Yan Zhang,Wenlong Shen et al.
Jiahui Yu et al.
Objective: Uniparental disomy of chromosome 6, typically paternal in origin (UPD6pat), results in significant phenotypic variability across different cases. This study integrates transcriptome-wide profiling of amniotic f...
MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia [0.03%]
MYO6与心脏：一名患有室上性心动过速的聋婴儿中的新型变异型
Samira Kalayinia,Tannaz Masoumi,Amirreza Taherkhani et al.
Samira Kalayinia et al.
Background: Variants in MYO6 are well known causes of hereditary deafness and have occasionally been linked to cardiac abnormalities, including hypertrophic cardiomyopathy and prolonged QT interval. However, supraventricu...
A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome [0.03%]
DHCR7基因c.89G>C p.(Gly30Ala)变异作为Smith-Lemli-Opitz综合征轻型表型的致病原因
Júlia Martinková,Emílie Vyhnálková,Martin Schwarz et al.
Júlia Martinková et al.
Background: Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene, resulting in a deficiency of the enzyme 7-dehydrocholesterol reductase. Two forms of ...
Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome [0.03%]
Rauch-Steindl综合征患者中新型NSD2错义变异的鉴定及功能分析
Shixuan Xu,Guoqaing Li,Yimin He et al.
Shixuan Xu et al.
Background: Rauch-Steindl syndrome (RAUST) is a rare neurodevelopmental disorder caused by pathogenic variants in NSD2, a histone methyltransferase gene at 4p16.3. Due to phenotypic overlap with Wolf-Hirschhorn syndrome (...
Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene [0.03%]
TCF4基因新型剪接突变(c.1146+3A>T)所致皮托-霍普金斯综合征的遗传分析
Wenlong Shen,Yan Zhang,Junjie Wu et al.
Wenlong Shen et al.
Objective: Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder primarily caused by TCF4 mutations and involves developmental, intellectual, and physical changes in children. Increased nuchal translucency (NT) has not ...
Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy [0.03%]
遗传性NPRL3剪接变异体的临床和基因特征及其与癫痫的关系研究
Shouxing Wang,Jihua Wu,Conglei Song et al.
Shouxing Wang et al.
Background: NPRL3-related epilepsy (NRE) is a GATORopathy characterized by focal seizures, with or without focal cortical dysplasia. Although NPRL3 variants have been associated with syndromes such as familial focal epile...
Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family [0.03%]
多级基因组和计算分析鉴定出与谱系 consanguineous 沙特家庭中的颅顶表皮发育不全 1 型相关的新IFT122变异型
Deema Aljeaid,Abdulrahman Almadiny,Khalidah K Nasser et al.
Deema Aljeaid et al.
Background: Cranioectodermal dysplasia (CED) is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, and ectodermal anomalies. Significant phenotypic heterogeneity often results in clinical overl...
GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature [0.03%]
儿童抗GPIHBP1自身抗体相关高甘油三酯血症2例报告及文献复习
Rai-Hseng Hsu,Wuh-Liang Hwu,Feng-Jung Yang et al.
Rai-Hseng Hsu et al.
Background: Severe hypertriglyceridemia (HTG) is rare in children and is often caused by monogenic disorders. However, autoimmune mechanisms, particularly antibodies against glycosylphosphatidylinositol-anchored high-dens...