Results 81 to 90 of about 135,756 (330)
Stem Cell Research, 2023 We have generated an iPSCs line (IPS-AML2-C3, SYSUSHi002-A) from AML cells of a 71-year-old male Acute Myeloid Leukaemia patient with TP53 gene mutation (TP53: c.824G > A, p.Cys275Tyr) using episomal plasmids encoding the factors OCT4, SOX2, KLF4, L-MYC ...
Lihua Yuan +4 more
doaj +1 more source
Advanced Science, EarlyView.Spermatogonial stem cells (SSCs) provide critical support to spermatogenesis. Here, the author established Il1r2 as a sorting marker for SSCs, with which further insights into the SSC heterogeneity and dynamic features can be obtained. They also confirmed findings in both mouse and human, thus validating IL1R2 as the surface marker for isolating and ...
Pengyu Li +19 more
wiley +1 more source
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
, 1996 Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
core +1 more source
A novel germ line juxtamembrane Met mutation in human gastric cancer [PDF]
Oncogene, 2000 Activating mutations in the Met receptor tyrosine kinase, both germline and somatic, have been identified in human papillary renal cancer. Here we report a novel germline missense Met mutation, P1009S, in a patient with primary gastric cancer. The dosage of the mutant Met DNA was elevated in the tumor when compared to its matched normal DNA. Therefore,
J H, Lee +8 more
openaire +2 more sources
Advanced Science, EarlyView.CCDC41 is essential for meiotic maturation in mouse oocytes through regulating Rab7‐positive endosomes fusion with lysosomes and Rab11a‐positive vesicle fusion with the plasma membrane. Abstract Coiled‐coil domain‐containing protein 41 (CCDC41), a core component of centriolar distal appendages involved in centriole assembly and ciliary vesicle docking,
Ying Tian +12 more
wiley +1 more source
Stem Cell Research, 2022 Induced pluripotent stem cell (iPSC) line, SJHi001-A, was generated from a diabetic patient carrying a heterozygous c.G248A mutation in GCGR gene that generated the p.W83X.
Yang Liu +8 more
doaj +1 more source
A novel function for the Caenorhabditis elegans torsin OOC-5 in nucleoporin localization and nuclear import. [PDF]
, 2015 Torsin proteins are AAA+ ATPases that localize to the endoplasmic reticular/nuclear envelope (ER/NE) lumen. A mutation that markedly impairs torsinA function causes the CNS disorder DYT1 dystonia. Abnormalities of NE membranes have been linked to torsinA
Dauer, William T +4 more
core +2 more sources
Bisphenol B Exposure Induces Miscarriage by Suppressing Migration/Invasion and Migrasome Formation
Advanced Science, EarlyView.BPB (Bisphenol B) exposure up‐regulates ER (estrogen receptor) levels, enhances its interactions with the lnc‐HZ04 promoter region, and thus promotes ER‐mediated lnc‐HZ04 transcription. Subsequently, lnc‐HZ04 suppresses TCF4 (transcription factor 4)‐mediated PKCA (protein kinase C alpha) transcription and subsequently suppresses migration/invasion and ...
Wenxin Huang +13 more
wiley +1 more source
Supplementary Figure 1 from Germ-Line Mutation of <i>NKX3.1</i> Cosegregates with Hereditary Prostate Cancer and Alters the Homeodomain Structure and Function [PDF]
, 2023 S. Lilly Zheng +15 more
openalex +1 more source
IGHV mutational status of nodal marginal zone lymphoma by NGS reveals distinct pathogenic pathways with different prognostic implications [PDF]
, 2019 The precise B cell of origin and molecular pathogenesis of nodal marginal zone lymphoma (NMZL) remain poorly defined. To date, due to the rarity of NMZL, the vast majority of already-published studies have been conducted on a limited number of samples ...
Amato, Teresa +15 more
core +2 more sources