Results 101 to 110 of about 314,830 (333)

A Novel Bioinformatic Approach to Understanding Addiction [PDF]

, 2017
Finding the genetic markers that influence complex, multigenic substance addiction phenotypes has been an area of significant medical study. Understanding complex disease traits like addiction has been hampered by the lack of functional insights into ...
Jackson, Latifa F.
core   +1 more source

Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]

, 2013
Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga, Carpenter, Gillian, Colnaghi, Rita, Kerzendorfer, Claudia, O'Driscoll, Mark   +4 more
core   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

Endocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero   +6 more
doaj   +1 more source

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. [PDF]

J Assist Reprod Genet, 2022
Martel RA, Blakemore JK, Fino ME.
europepmc   +1 more source

Muscle‐Derived Small Extracellular Vesicles Mediate Exercise‐Induced Cognitive Protection in Chronic Cerebral Hypoperfusion

Advanced Science, EarlyView.
sEVs have a critical role in orchestrating interorgan crosstalk and mediating exercise‐induced therapeutic effects. Lin et al. demonstrates that sEVs miR‐17/20a‐5p mediates the muscle‐brain crosstalk and emphasizes the central role of mTOR signaling in executing molecular programs that can protect brain health in response to exercise. Abstract Physical
Huawei Lin, Lianhua Yin, Weilin Liu, Rui Li, Tao Jiang, Minguang Yang, Yajun Cao, Sinuo Wang, Yan Yu, Cong Chen, Xiaoqin Guo, Wenju Wang, Huanhuan Liu, Yaling Dai, Jiamin Yan, Yanting Lin, Yanyi Ding, Chendong Ruan, Lei Yang, Tiecheng Wu, Jing Tao, Lidian Chen   +21 more
wiley   +1 more source

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source

Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation

Neural Plasticity, 2012
The development of genetic technologies has led to the identification of several copy number variations (CNVs) in the human genome. Genome rearrangements affect dosage-sensitive gene expression in normal brain development.
Jun Nomura, Toru Takumi
doaj   +1 more source

Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. [PDF]

, 2009
Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disease affecting >4,00,000 individuals in the United States. Population and family-based studies have suggested that there is a strong genetic component.
Bradford, Y, Gregory, SG, Haines, JL, Hauser, SL, Kenealy, SJ, McCauley, JL, Mortlock, DP, Oksenberg, JR, Pericak-Vance, MA, Schnetz-Boutaud, N, Zuvich, RL   +10 more
core  

Real‐Time Evolutionary Landscape of the Bronchial Epithelium and Corresponding Dynamic Immune Cell Alterations in Lung Squamous Cell Carcinogenesis

Advanced Science, EarlyView.
Lung squamous cell carcinoma (LUSC) is often preceded by sequential premalignant lesions with an increasing probability of malignant progression. Using single‐cell RNA sequencing, the dynamic cellular evolution from normal lung to LUSC tissues is delineated; clonal structure of premalignant and malignant epithelium is reveled; the conversion of immune ...
Baohong Luo, Yuting Luo, Sicheng Chen, Tiantian Yang, Bixia Liu, Xiting Liao, Xiaoke Zheng, Tian Tian, Jinxu Liu, Qinru Zhan, Xiaohua Situ, Zhongpeng Xie, Yanxia Wang, Zhe‐Sheng Chen, Honglei Chen, Zheng Yang, Zunfu Ke   +16 more
wiley   +1 more source