Townes-Brocks Syndrome With Consistent Renal Hypodysplasia and Variable Extrarenal Features Across Three Generations of Serbian Family [0.03%]
一名塞尔维亚家庭三代人患 Townes-Brocks 综合征伴一致的肾发育不良和多变的额外泌尿系统特征
A Paripović,A Janković,N Ilić et al.
A Paripović et al.
Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant disorder caused by pathogenic variants in SALL1, classically defined by dysplastic ears, anorectal malformations, and thumb anomalies. Renal involvemen...
A Novel 4.2 kb deletion of the 3'UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3'UTR [0.03%]
RUNX2基因3'UTR的新型4.2kb缺失导致克兰唐氏综合征：进一步阐明3' UTR的作用
M Mijovic,G Cuturilo,J Ruml Stojanovic et al.
M Mijovic et al.
Cleidocranial dysplasia is a rare autosomal dominant skeletal dysplasia. We present the first case in the literature involving a deletion of the 3'UTR of RUNX2 gene associated with a cleidocranial dysplasia spectrum disorder, along with the...
The Association of ACSL1 and UCP2 3' UTR Polymorphisms With the Clinicopathological Characteristics of Patients With Colorectal Cancer in Serbia [0.03%]
ACSL1和UCP2 3'UTR多态性与塞尔维亚结直肠癌患者临床病理特征的相关性分析
E Ajaj,D Cvetković,M Rašić et al.
E Ajaj et al.
Cancer cells rely upon fatty acids (FA) for proliferation, survival, and metastasis. Overexpression of long-chain acyl CoA synthetase 1 (ACSL1), responsible for long-chain FA synthesis, can increase cell invasion and proliferation. Uncoupli...
Secretory Breast Carcinoma in A Six-Year-Old Girl: Case Report With Genetic Insights and Therapeutic Implications [0.03%]
六岁女孩分泌性乳腺癌一例并文献复习及遗传学分析
A Vlahović,S Nikolić,S M Djuričić et al.
A Vlahović et al.
Background: Secretory breast carcinoma (SBC) is an extremely rare subtype, accounting for ~1% of breast cancers but representing the most common malignant breast tumor in pediatric patients. Although generally indolent, S...
PON1 (Paraoxonase 1) Q192R Gene Polymorphism in North Macedonian Population with Confirmed Coronary Artery Disease [0.03%]
北马其顿冠心病患者PARAOXONASE 1(Q192R)基因多态性研究
K Krsteva Jakimovska,M Vavlukis,A Eftimov et al.
K Krsteva Jakimovska et al.
Aim: This study aims to examine the association between the prevalence of Q192R polymorphism of PON1 gene and the occurrence of atherosclerosis and coronary artery disease in patients in Republic of North Macedonia. ...
Identification of Serum Proteome in Children with Autism Spectrum Disorder [0.03%]
自闭症谱系障碍儿童血清蛋白质组的识别
T N Popov,S D Minchev,I T Vachev
T N Popov
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social interaction, communication deficits, and restricted, repetitive behaviors. Early and accurate diagnosis is essential for timely interv...
Identification of a Novel Homozygous IHH Variant Causing Novel Acromesomelic Maroteaux-Type Skeletal Dysplasia in a Pakistani Family [0.03%]
巴基斯坦一个家族中导致新型短肢畸形Maroteaux型远端肢体骨骼发育不良的新型IIH变异体鉴定
M Hanif,B Ahmad,S Farman et al.
M Hanif et al.
Acromesomelic dysplasias (AMDs) are rare skeletal disorders marked by disproportionate shortening of middle and distal limb segments. Among these, AMD Maroteaux type (AMDM), is commonly associated with mutations in NPR2 gene. However, mutat...
Impact of Cholecystectomy on Gastric Mucosal c-MYC and h-TERT Expression; A Potential Link to Gastric Cancer Development [0.03%]
胆囊切除术对胃粘膜c-myc和h-tert表达的影响及其与胃癌发生的关系研究
E Kasap,S Sabah Özcan,L Elmas et al.
E Kasap et al.
Gastric cancer is a multifactorial malignancy influenced by genetic and environmental factors. Cholecystectomy may lead to bile reflux, causing potential gastric mucosal injury. hTERT and c-MYC are key regulators in cellular proliferation a...
Exploratory Analysis of Sex-Related Immune Gene Expression in Patients With Severe Periodontitis [0.03%]
重症牙周病患者性激素相关免疫基因表达的探索性分析
D Dimitrov,V Dosseva-Panova,I Dimova et al.
D Dimitrov et al.
Background: Biological sex influences immune function and inflammatory regulation, but its molecular role in periodontal disease remains insufficiently understood. This pilot study investigated sex-dependent differences i...
Monogenic Findings in Early Pregnancy Loss: Whole-Exome Sequencing Study of Euploid Products of Conception [0.03%]
整倍体妊娠丢失组织的全外显子测序研究及其单基因发现
Gj Bozhinovski,P Noveski,M Terzikj et al.
Gj Bozhinovski et al.
Early pregnancy loss (EPL), particularly when recurrent, represents a profoundly distressing experience for affected couples. Although chromosomal abnormalities are the most common cause of EPL, a substantial proportion of cases, especially...