Results 131 to 140 of about 379,249 (335)

Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay [PDF]

open access: gold, 2022
Yi Liu   +13 more
openalex   +1 more source

A Unique Chimeric RNA: ERCC1‐iASPP Drives Benzo[a]pyrene‐Induced Lung Carcinogenesis via Dual Coding and Non‐Coding Mechanisms

open access: yesAdvanced Science, EarlyView.
The chimeric RNA ERCC1‐iASPP possesses dual coding and non‐coding functions, synergistically accelerating the process of cellular malignant transformation. Abstract Genetic variation at 19q13.3 critically modulates chemical carcinogen‐induced lung carcinogenesis, particularly in mediating the activity of benzo[a]pyrene (B[a]P), a major polycyclic ...
Mingming Shan   +9 more
wiley   +1 more source

Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. [PDF]

open access: yes, 2015
Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by intrusive thoughts and urges and repetitive, intentional behaviors that cause significant distress and impair functioning.
Askland, KD   +28 more
core  

21q22 balanced chromosome aberrations in therapy‐related hematopoietic disorders: Report from an International Workshop† [PDF]

open access: bronze, 2002
Marilyn L. Slovak   +5 more
openalex   +1 more source

Ribosome Homeostasis Regulated by SETD2 Preserves Intestinal Epithelial Barrier

open access: yesAdvanced Science, EarlyView.
SETD2 ablation causes dysregulation and recruitment defects of ribosome biogenesis factors, resulting in translational disorders of barrier maintenance genes, thereby compromising the intestinal barrier. These findings unveil a previously unappreciated role of ribosome biogenesis and translational regulation in preserving the intestinal epithelial ...
Hanyu Rao   +11 more
wiley   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

open access: yes, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Akihiro Yachie, Yo Niida
core   +1 more source

Anti‐PD‐1 Nanobody‐Armored MSLN CAR‐T Therapy for Malignant Mesothelioma: Preclinical and Clinical Studies

open access: yesAdvanced Science, EarlyView.
A novel therapy using engineered immune cells (NAC‐T cells) showed promise for refractory malignant mesothelioma. Based on the encouraging preclinical data, the first‐in‐human trial is initiated, demonstrating tolerable safety and promising anti‐tumor activity (ORR 63.6%, DCR 100%, including one CR).
Yan Sun   +23 more
wiley   +1 more source

Prenatal detection of chromosome disorders [PDF]

open access: bronze, 2001
Kathy Mann, Caroline Mackie Ogilvie
openalex   +1 more source

Depletion of Sorcs3 Activates Totipotency in Mouse Embryonic Stem Cells by Modulating Key Signaling Pathways

open access: yesAdvanced Science, EarlyView.
In this article, Shuai and colleagues found that depletion of Sorcs3 could activate totipotency in mESCs, promising bidirectional differentiation potential to embryonic and extraembryonic lineages. The underlying mechanism might be activation of Tfap2c and repression of TGF‐β, PI3K‐AKT, and lysosome pathways.
Wenhao Zhang   +12 more
wiley   +1 more source

X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome

open access: yesFrontiers in Genetics
X chromosome-wide association studies (XWAS) have identified susceptibility variants for various neurodegenerative and neurodevelopmental diseases. The unique characteristics of the chromosome require more complex analytical approaches than standard ...
Kathryn Step   +8 more
doaj   +1 more source

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