过去一年中添加的文章,按日期排序
Novel FTA2 variants were observed in patients with restless legs syndrome via whole-exome sequencing
Z Li, Y Zhang, Z Zhang, H Zhou, Y Xu, S Wang, J Sun - 2024 - researchsquare.com
149 天前 - … In summary, this study rst reported two novel variants of the FAT2 gene in a RLS
family, which provided a preliminary theoretical basis for clinical diagnosis and etiology …
family, which provided a preliminary theoretical basis for clinical diagnosis and etiology …
GLMN variants cause skin hyperpigmentation: a promising potential therapeutic target
Q Cao, M Li - British Journal of Dermatology, 2024 - academic.oup.com
153 天前 - … However, inherited hyperpigmented skin disorders comprise a group of entities
with considerable clinical and genetic heterogeneity, making their genetic basis difficult to …
with considerable clinical and genetic heterogeneity, making their genetic basis difficult to …
[图书][B] Genetic studies of rare skeletal disorders: to solve the unsolved
D Batkovskyte - 2024 - openarchive.ki.se
158 天前 - … includes clinical characterization, radiographic pattern recognition, and genetic
testing. … a gap in understanding the genetic and phenotypic characteristics of some of the …
testing. … a gap in understanding the genetic and phenotypic characteristics of some of the …
WHEN AND WHERE DOES A CARRIER OF HEREDITARY TRANSTHYRETIN AMYLOIDOSIS (ILE88LEU) SHOW THE FIRST SIGNS OF THE DISEASE …
L Brugiatelli, F Vagnarelli, C Lofiego… - European Heart …, 2024 - academic.oup.com
161 天前 - … analyzed 63 patients with CA and compared them with 80 true HFpEF patients and
70 … the diagnosis and diastolic function was characterized according to current guidelines. …
70 … the diagnosis and diastolic function was characterized according to current guidelines. …
Signatures of selection for biallelic inactivation in tumor suppressor genes across cancer types
MR Zucker, MA Perry, A Elkrief, A Safonov… - Cancer Research, 2024 - AACR
170 天前 - … in depth functional characterization. Patients with KEAP1 VUS also show similarly
poor … to chemoimmunotherapy to patients with known KEAP1 driver mutations, indicating that …
poor … to chemoimmunotherapy to patients with known KEAP1 driver mutations, indicating that …
Patient-derived gbm organoids reflect tumour heterogeneity and treatment sensitivity in patients
MA Vooijs, L Hoosemans, J Piepers, M Verduin… - Cancer Research, 2024 - AACR
170 天前 - … -derived cancer organoids have been shown to maintain genetic and phenotypic …
molecular characterisation of patient-derived GBM organoid (PGO) models to study treatment …
molecular characterisation of patient-derived GBM organoid (PGO) models to study treatment …
Genetic or pharmacological inactivation of CREBBP sensitizes B-cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
AG Gimenez, J Ditcham, DM Azazi, E Meduri, R Asby… - Cancer Research, 2024 - AACR
170 天前 - … We sought to identify novel treatment options for CREBBP-mutated high-risk B-ALL.
CREBBP-mutated isogenic human B-ALL cell lines were genome-engineered to provide a …
CREBBP-mutated isogenic human B-ALL cell lines were genome-engineered to provide a …
Right oncogene, wrong tumor-CBL mutations in pediatric CNS and solid tumors
170 天前 - … Functionally, we show that overexpression of CBL ex8/9Δ … In this study, we
demonstrate that CBL is mutated in a range of … for high-risk patients with limited therapeutic …
demonstrate that CBL is mutated in a range of … for high-risk patients with limited therapeutic …
In vivo characterization of neuroblastoma intratumoral heterogeneity
WR Squires, A Weiss, S Cohen-Gogo, A Shlien… - Cancer Research, 2024 - AACR
170 天前 - … To better understand underlying genetic mechanisms associated with aggressive
neuroblastoma, our group incorporated patient-relevant loss-of-function mutations into the …
neuroblastoma, our group incorporated patient-relevant loss-of-function mutations into the …
Computational discovery of paralog dependencies drives target identification in lung cancer
S O'Brien, AH Berger - Cancer Research, 2024 - AACR
170 天前 - … To identify patterns of mutation and expression of paralog genes in lung cancer,
we have accessed publicly available data sets for both cell line and patient tumor samples. …
we have accessed publicly available data sets for both cell line and patient tumor samples. …