Results 171 to 180 of about 462,672 (344)

Xenogeneic Mitochondrial Transplantation Improves Selected Age‐Associated Phenotypes in Mice

Advanced Science, EarlyView.
Yak‐derived xenogeneic mitochondrial transplantation improves selected age‐associated phenotypes in mice, enhances mitochondrial functional readouts, and engages host mitochondrial quality‐control pathways. Broad tissue biodistribution, increased ATP production and mtDNA copy number, reduced ROS levels and dysfunctional mitochondria, improved motility ...
Wenpeng Li, Xijia Wang, Yaning Hu, Zhen Yang, Tian Niu, Xingbo Zhao   +5 more
wiley   +1 more source

Interstitial deletion and ring chromosome derived from 16q. [PDF]

, 1987
Celeste M. Krauss, Dorothy W. Caldwell, L. Atkins   +2 more
openalex   +1 more source

Circulating Tumor Cells in Multiple Myeloma: From Peripheral Clues to Central Insights

American Journal of Hematology, EarlyView.
CTC offer a minimally invasive widow into systemic myeloma biology, overcoming the sampling bias of bone marrow biopsies. Their prognostic value at diagnosis, potential role in MRD monitoring, and ability to capture clonal evolution highlight them as actionable biomarkers for future precision medicine.
Benjamin Podvin, Bruno Paiva, Irene M. Ghobrial, Salomon Manier   +3 more
wiley   +1 more source

Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations

The Turkish Journal of Pediatrics, 2000
CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22q11.
M Alikaşifoğlu, N Malkoç, N Ceviz, S Ozme, S Uludoğan, E Tunçbilek   +5 more
doaj  

A Japanese propositus with D-- phenotype characterized by the deletion of both the RHCE gene and D1S80 locus situated in chromosome 1p and the existence of a new CE-D-CE hybrid gene [PDF]

, 2000
Hiroshi Okuda, Hiroyuki Fujiwara, Toshinori Omi, Sadahiko Iwamoto, Masaki Kawano, Tomoko Ishida, Shosaku� Nomura, S Fukuhara, Atsushi Nagai, Isao Ohya, Eiji Kajii   +10 more
openalex   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report [PDF]

Chithra Uppinkudru, Rakshathi Basavaraju, Gautham Arunachal Udupi, Urvakhsh Meherwan Mehta   +3 more
openalex   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Exploring the forensic effectiveness and population genetic differentiation in Guizhou Miao and Bouyei group by the self-constructed panel of X chromosomal multi-insertion/deletions [PDF]

Xiaolan Huang, Chunyan Gu, Qianchong Ran, Li Chen, Shunyi Tian, Min Zhong, Zheng Ren, Qiyan Wang, Meiqing Yang, Jingyan Ji, Wen Wan, Jiang Huang, Hongling Zhang, Xiaoye Jin   +13 more
openalex   +1 more source

Atypical development of the executive attention network in children with chromosome 22q11.2 deletion syndrome [PDF]

, 2010
Joel Stoddard, Laurel Beckett, Tony J. Simon   +2 more
openalex   +1 more source