Results 101 to 110 of about 3,022,656 (326)

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source

Multi‐omics and low‐input proteomics profiling reveals dynamic regulation driving pluripotency initiation in early mouse embryos

FEBS Open Bio, EarlyView.
Mouse pre‐implantation development involves a transition from totipotency to pluripotency. Integrating transcriptomics, epigenetic profiling, low‐input proteomics and functional assays, we show that eight‐cell embryos retain residual totipotency features, whereas cytoskeletal remodeling regulated by the ubiquitin‐proteasome system drives progression ...
Wanqiong Li, Xi Xiao, Lingbin Qi, Chanyi Li, Sirui Song, Jiaying Qin, Zhigang Xue, Jinfeng Xue, Huaifang Li   +8 more
wiley   +1 more source

Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population

The Application of Clinical Genetics
Yingwen Liu,1,2 Jiangyang Xue,1,2 Lulu Yan,1,2 Changshui Chen,2 Shumin Zhao,3 Haibo Li1,2 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, 315000, People’
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H   +5 more
doaj  

EFFECTIVENESS OF DENTAL IMPLANTATION WITH IMMEDIATE LOADING WHEN REPLACING FRONTAL DENTITION DEFECTS

, 2022
Alexandr Lepilin, Maria Shalina, Nadezhda Erokina, Natalia Zakharova, Sergey Fischev, Arkady Sevastyanov, Yana Chernenko, Dmitry Domenyuk   +7 more
openalex   +1 more source

Transdimensional defects

Journal of High Energy Physics
Abstract This note introduces a novel paradigm for conformal defects with continuously adjustable dimensions. Just as the standard ε expansion interpolates between integer spacetime dimensions, a new parameter, δ, is used to interpolate between different integer-dimensional defects.
Elia de Sabbata, Nadav Drukker, Andreas Stergiou   +2 more
openaire   +3 more sources

Differential regulation of ZFAS1 splice variants by endoplasmic reticulum stress in hepatocyte cell lines

FEBS Open Bio, EarlyView.
ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand, Paulina Lau, Ruth McPherson   +2 more
wiley   +1 more source

BMI‐1 modulation and trafficking during M phase in diffuse intrinsic pontine glioma

FEBS Open Bio, EarlyView.
The schematic illustrates BMI‐1 phosphorylation during M phase, which triggers its translocation from the nucleus to the cytoplasm. In cycling cells, BMI‐1 functions within the PRC1 complex to mediate H2A K119 monoubiquitination. Following PTC596‐induced M phase arrest, phosphorylated BMI‐1 dissociates from PRC1 and is exported to the cytoplasm via its
Banlanjo Umaru, Deepak Kumar Mishra, Shiva Senthil Kumar, Hao‐Han Pang, Brendan Devine, Komal Khan, Rachid Drissi   +6 more
wiley   +1 more source

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Non-integrated defect relation for meromorphic maps of complete Kähler manifolds into $\mathbb{P}^{n}(\mathbb{C})$ intersecting hypersurfaces [PDF]

, 2011
Min Ru, Suraizou Sogome
openalex   +1 more source

Dihydroorotate dehydrogenase (DHODH) regulates trophoblast syncytialization through organelle stress–induced cellular senescence

FEBS Open Bio, EarlyView.
The inhibition of mitochondrial dihydroorotate dehydrogenase (DHODH) impairs syncytialization and induces cellular senescence via mitochondrial and endoplasmic reticulum stress in human trophoblast stem cells, elevating sFlt1/PlGF levels, a hallmark of placental dysfunction in hypertensive disorders of pregnancy.
Kanoko Yoshida, Kazuya Kusama, Ayaka Horiuchi, Yu Kawaguchi, Atsuya Tsuru, Mikihiro Yoshie, Kazuhiro Tamura   +6 more
wiley   +1 more source