Results 131 to 140 of about 19,235 (265)

Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy. [PDF]

, 1996
Kevin Talbot, Nanda R. Rodrigues, Günther Bernert, Reginald E. Bittner, K.E. Davies   +4 more
openalex   +1 more source

Severe factor XI deficiency caused by compound heterozygosity [PDF]

British Journal of Haematology, 2004
Dai, L, Mitchell, M, Carson, P, Creagh, D, Cutler, J, Savidge, G, Alhaq, A   +6 more
openaire   +2 more sources

Contribution of Gli1+ Adventitial Stem Cells to Smooth Muscle Cells in Atherosclerosis and Vascular Injury

Advanced Science, EarlyView.
Gli1+ adventitial stem cells (ASCs) have been thought to generate smooth muscle cells (SMCs) in atherosclerosis. Using a dual‐recombinase lineage tracing to exclude ectopic labeling, Wang et al. found that Gli1+ ASCs do not contribute to SMCs in atherosclerotic plaques.
Haixiao Wang, Xiuzhen Huang, Jialing Mou, Enci Wang, Yan Li, Wenjuan Pu, Yao Xie, Xiaoling Guo, Lixin Wang, Maoping Chu, Bin Zhou, Chao Niu   +11 more
wiley   +1 more source

Nap1L4a Cooperates with Scl/Klf1 to Recruit H2A.Z in Mediating Interactions Among Cis‐Regulatory Elements and Transcription Required for Primitive Erythropoiesis in Zebrafish

Advanced Science, EarlyView.
Nap1l4a is required in erythropoiesis and hypoxia responses via physical interaction with Klf1 and Scl to recruit the histone variant H2A.Z. This facilitates its associated cis‐regulatory element (CRE) remodeling and the consequent chromatin assembly, and activates the transcription of erythroid lineage‐specific genes.
JiaHao Shi, FuMing Lai, Zheng Shen, XiaoYan Zhang, HanFei Wang, WenYe Liu, YunLong Wang, KuanYu Li, GuoLiang Li, YaPing Fang, Jing‐Xia Liu   +10 more
wiley   +1 more source

Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report. [PDF]

Ann Med Surg (Lond), 2023
Moassas F, Daboul A, Assád M, Murad H.
europepmc   +1 more source

Endocytic Control of Cell‐Autonomous and Non‐Cell‐Autonomous Functions of p53

Advanced Science, EarlyView.
NUMB Ex3‐containing isoforms localize to the plasma membrane, where they recruit p53 through SNX9 and direct it to multivesicular bodies and exosomes. Exported p53 is taken up by neighboring cells and activates nuclear programs, revealing an intercellular, exosome‐based pathway that might help establish a tumor‐suppressive microenvironment.
Roberta Cacciatore, Andrea Basile, Stefano Freddi, Irene Schiano Lomoriello, Carlo Ribelle Zucca, Giuseppe Ciossani, Luigi Scietti, Alessandro Cuomo, Simona Ronzoni, Simone Pelicci, Mario Faretta, Elena Zaccheroni, Giuliana Pelicci, Vittoria Matafora, Angela Bachi, Rosalind Helen Gunby, Salvatore Pece, Sara Sigismund, Letizia Lanzetti, Ivan Nicola Colaluca, Pier Paolo Di Fiore   +20 more
wiley   +1 more source

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC‐Derived Cortical Organoids

Advanced Science, EarlyView.
A new cerebrocortical organoid model using isogenic hiPSCs with familial Alzheimer's mutations recapitulates key AD features, including amyloid‐beta and phospho‐Tau aggregation, neuronal hyperexcitability, and synapse loss. Single‐cell RNA‐seq reveals aberrant pathways in excitatory and inhibitory neurons.
Sergio R. Labra, Jadon Compher, Akhil Prabhavalkar, Mireya Almaraz, Claudia Cedeño Kwong, Christine Baal, Maria Talantova, Nima Dolatabadi, Julian Piña‐Sanz, Yubo Wang, Leonard Yoon, Swagata Ghatak, Zi Gao, Yuting Zhang, Dorit Trudler, Lynee Massey, Wei Lin, Anthony Balistreri, Michael Bula, Nicholas J. Schork, Tony S. Mondala, Steven R. Head, Jeffery W. Kelly, Stuart A. Lipton   +23 more
wiley   +1 more source

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency. [PDF]

Front Pediatr, 2022
Kim M, Lee SY, Kim N, Lee J, Kim DS, Park J, Cho YG.   +6 more
europepmc   +1 more source

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome [PDF]

, 2002
Neil V. Whittock, Hong Wan, Robin A.J. Eady, Susan M. Morley, Maria C. Garzón, Leonard Kristal, Patrice Hyde, W.H. Irwin McLean, Leena Pulkkinen, Juoni Uitto, Angela M. Christiano, John A. McGrath   +11 more
openalex   +1 more source

Cancer‐Like Fragmentomic Characteristics of Somatic Variants in Cell‐Free DNA

Advanced Science, EarlyView.
We report that in non‐cancerous subjects, cell‐free (cfDNA) molecules harboring somatic variants exhibit cancer‐like fragmentomic characteristics associated with clonal hematopoiesis. Importantly, these somatic variant‐associated fragmentomic aberrations are more pronounced in cancer patients. Leveraging such somatic variant‐associated signals in cfDNA,
Zhenyu Zhang, Yunyun An, Mengqi Yang, Yuqi Pan, Xiaoyi Liu, Fanglei Gong, Huizhen Lin, Bianbian Tang, Yunxia Bai, Xin Zhao, Yu Zhao, Changzheng Du, Kun Sun   +12 more
wiley   +1 more source