Results 341 to 350 of about 1,506,824 (383)

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

Pediatric Investigation, EarlyView.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li, Ming Cheng, Min Liu, Wenjing Li, Yuchuan Li, Bingyan Cao, Liya Wei, Yuan Ding, Xi Meng, Lele Li, Chunxiu Gong   +10 more
wiley   +1 more source

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study. [PDF]

BMC Med Genomics
Khashei Varnamkhasti K, Khashei Varnamkhasti S, Shahrouzian A, Rahimzadeh M, Naeimi L, Naeimi B, Naeimi S.   +6 more
europepmc   +1 more source

P53 and anti‐p53 autoantibody complex versus anti‐p53 antibody as a biomarker for gastrointestinal cancer

Precision Medical Sciences, EarlyView.
This study compares the diagnostic value of the anti‐p53 autoantibody as potential biomarkers for gastrointestinal cancer with enzyme‐linked immunosorbent assay technique. Abstract Gastrointestinal tract cancer is among the most common types of cancer and includes colorectal cancer (CRC) and gastric cancer (GC).
V. Hamidi Sofiani, A. Ebrahimian Shiadeh, A. Tabarraei, H. Razavi Nikoo, F. Sadeghi, Gh. Kamrani, Y. Yahyapour, A. Moradi   +7 more
wiley   +1 more source

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review. [PDF]

Front Pediatr
Tian F, Dong X, Yuan R, Hou X, Qing J, Li Y.   +5 more
europepmc   +1 more source

Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10

Movement Disorders, EarlyView.
Claudio M. de de Gusmao, Sara C.B. Casagrande, Matheus A. Castro, André Pessoa, Cleonisio Leite Rodrigues, Laura Silveira Moriyama, Fernando Kok, Paulo Ribeiro Nóbrega   +7 more
wiley   +1 more source

The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα‐Fold Arrangement

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Transport and Golgi Organization 2 Homolog (TANGO2) protein deficiency disorder (TDD) is a rare autosomal recessive disorder characterized by multi‐systemic abnormalities and significant phenotypic variability including neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, rhabdomyolysis, life‐threatening metabolic ...
Anne Cooper, Alyssa Powers, Kevin P. Battaile, Al‐Walid Mohsen, David K. Johnson, Scott Lovell, Lina Ghaloul‐Gonzalez   +6 more
wiley   +1 more source

Investigation of missense mutation-related type 1 diabetes mellitus through integrating genomic databases and bioinformatic approach. [PDF]

Genomics Inform
Pakha DN, Yudhani RD, Irham LM.
europepmc   +1 more source

Novel LPIN2 mutations in Majeed syndrome induce NF‐κB pathway activation

Rheumatology &Autoimmunity, EarlyView.
This study identifies novel LPIN2 mutations in Majeed syndrome that induce NF‐κB pathway activation, linking defective LPIN2 function to aberrant inflammation in this rare autoinflammatory disorder.
Yibing Han, Renmei Cai, Yuanxuan Ma, Shiguo Liu, Bin Liu   +4 more
wiley   +1 more source

Biofunctional study on chemoresistance in esophageal squamous carcinoma cells induced by missense mutation of NOTCH1 p.E450K. [PDF]

J Thorac Dis
Li K, Hao W, Wu J, Liu X, Xing W, Zheng Y.   +5 more
europepmc   +1 more source