过去一年中添加的文章，按日期排序
A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
N Rezaie, N Mansour Samaei, A Ghorbani… - BMC Medical …, 2024 - Springer
4 天前 - … The aim of this study is to present two Iranian patients with H … patients, considering
their phenotypes and initial diagnosis. The genetic analysis led to the identification of a novel …
their phenotypes and initial diagnosis. The genetic analysis led to the identification of a novel …
[HTML][HTML] Uncovering the limitations and potential of Alzheimer's disease mouse models using mass spectrometry-based proteomics
K Wenger - 2024 - depositonce.tu-berlin.de
7 天前 - … using orthogonal techniques such as immunohistochemistry and functional biological
assays. This study presents a previously uncharted connection elucidating the interplay …
assays. This study presents a previously uncharted connection elucidating the interplay …
Congenital Dyserythropoietic Anaemia Type II with SEC23B Mutation in Adults: A Case Series
P Moule, D Gupta, C Agarwal, S Langer, A Saraf… - Indian Journal of …, 2024 - Springer
7 天前 - … We report two cases of CDA type 2 with the novel founder mutation Tyr462Cys in
exon 12 of SEC23B gene; one with severe transfusion-dependent anaemia since childhood …
exon 12 of SEC23B gene; one with severe transfusion-dependent anaemia since childhood …
Novel RNAi and CRISPR/Cas approaches for developing immunologic-safe cereal varieties
MH Guzmán López - 2024 - helvia.uco.es
10 天前 - … sera from patients with WDEIA. Firstly, we characterized these RNAi lines' gliadin
and glutenin content through high-performance liquid chromatography (HPLC) analysis. Then…
and glutenin content through high-performance liquid chromatography (HPLC) analysis. Then…
Characterisation of chromatin modifiers in endometrial cancer
KZ Kedzierska - 2024 - ora.ox.ac.uk
12 天前 - … between driver mutations and patient survival, revealing that mutations in PBRM1
and … and functional analyses of chromatin modifiers in EC, this thesis offers novel insights …
and … and functional analyses of chromatin modifiers in EC, this thesis offers novel insights …
[HTML][HTML] The importance of clinical and genetic diagnosis, systematic reporting, and biomarkers in the context of hereditary spastic paraparesis
E Cioffi - 2024 - iris.uniroma1.it
14 天前 - … of NGS in HSP, uncovering novel mutations, exploring the … for better defining
clinical characteristics and genotype-… blood cells and genetic testing. Their phenotype was …
clinical characteristics and genotype-… blood cells and genetic testing. Their phenotype was …
A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
Y Zhuang, R Zhang, M Li, Y Zou, S Jiang… - Clinical, Cosmetic …, 2024 - Taylor & Francis
14 天前 - … study, we reported a novel mutation in the family and introduced the results of clinical
and molecular analyses of this family including those in patients … genetic analysis with the …
and molecular analyses of this family including those in patients … genetic analysis with the …
Development and validation of a novel disulfidptosis-related lncRNAs signature in patients with HPV-negative oral squamous cell carcinoma
F Yang, X Niu, M Zhou, W Li - Scientific Reports, 2024 - nature.com
15 天前 - … and exclusion (TIDE) analysis. (E) Waterfall plot of top 15 mutant genes in the
high-risk group. (F) Waterfall plot of top 15 mutant genes in the low-risk group. (G) Violin plots …
high-risk group. (F) Waterfall plot of top 15 mutant genes in the low-risk group. (G) Violin plots …
MULTI-OMICS IN TBCK SYNDROME: OFFERING THE FIRST UNBIASED APPROACH TO IDENTIFY POTENTIAL THERAPEUTIC TARGETS
A Diaz-Rosado - 2024 - repository.upenn.edu
16 天前 - … Due to multiple reports of reduced mTORC1 signaling in TBCK patients [1, 12], our
group decided to characterize a knockout (KO) mouse model to investigate different aspects …
group decided to characterize a knockout (KO) mouse model to investigate different aspects …
Statistical Models for Alternative Splicing with Applications to Heterogeneous Disease
D Wang - 2024 - repository.upenn.edu
16 天前 - … data, we show that our pipeline discovers novel intron retention associated variants
in the Alzheimer’s CASS4 gene and variants in NAGNAG motifs. Furthermore, we show that …
in the Alzheimer’s CASS4 gene and variants in NAGNAG motifs. Furthermore, we show that …