Results 101 to 110 of about 2,659,990 (289)

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

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

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  

Huaier inhibits autophagy and promotes apoptosis in T-cell acute lymphoblastic leukemia by down-regulating SIRT1

Heliyon
Objective: Due to the high drug resistance and relapse rate of T-cell acute lymphoblastic leukemia (T-ALL), the prognosis is usually poor. Therefore, there is an urgent need to find safer and more effective therapeutic drugs. Huaier and its preparations,
Xiang Qin, Xi Chen, Fan Wang, Fangfang Zhong, Yan Zeng, Wenjun Liu   +5 more
doaj   +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

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

Decreased cold‐sensing function of the transient receptor potential channel TRPM8 from tailed amphibians

FEBS Open Bio, EarlyView.
Despite frogs avoiding low temperatures, examination of four salamander species revealed that none avoided cold and all possessed cold tolerance. Functional analysis of TRPM8, a cold sensor, showed that all salamander TRPM8s had lost their cold sensitivity.
Tadahiro Sawao, Daiki Kobayashi, Shogo Hori, Osamu Saitoh   +3 more
wiley   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Why human connection is the true metric of research success

FEBS Open Bio, EarlyView.
Human‐centred mentorship can be shaped by mentor attributes, actions, intrinsic drive and career ambition. Drawing on reflections across Singapore and France, as well as workshop insights from FEBS‐IUBMB ENABLE 2024, this article shows that human‐centred mentorship creates the conditions for sustainable growth, well‐being and retention in research ...
Timothy Lin Yun Tan, Mattias Wei Ren Kon, Xavier Coumoul, Fun Man Fung   +3 more
wiley   +1 more source

Blood‐based proteomic profiling reveals context‐dependent changes in BCL2‐associated signaling during taxane therapy in breast cancer patients

FEBS Open Bio, EarlyView.
Chemotherapy side effects significantly impact cancer survivors' quality of life. Using protein levels in blood samples from breast cancer patients before and after 12 weeks of taxane treatment, we detected treatment‐dependent changes in calcium signaling and aging pathways associated with cancer recurrence.
Saira Munshani, Eiman Y. Ibrahim, Rozalyn L. Rodwin, Leah M. Ferrucci, Kim Blenman, Maryam Lustberg, Barbara E. Ehrlich   +6 more
wiley   +1 more source