Results 81 to 90 of about 9,293,313 (313)

Enhancer Redundancy Allows for Phenotypic Robustness in Mammalian Development

open access: yesNature, 2018
Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber protein-coding genes in mammalian genomes, but the functional importance of this regulatory complexity remains unclear. Here we show that the pervasive presence of
M. Osterwalder   +19 more
semanticscholar   +1 more source

T2* Magnetic Resonance Imaging Uncovers Hemosiderin Burden in Pediatric Hemophilia: A Call for Sensitive Imaging Biomarkers

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Hemophilic arthropathy remains the leading morbidity in hemophilia despite modern prophylaxis, and early joint damage may be missed by routine exams. This study explored T2* MRI as a noninvasive biomarker of hemosiderin deposition in pediatric hemophilia.
Jessica Garcia   +6 more
wiley   +1 more source

Childhood Acute Lymphoblastic Leukemia Survival in Western Kenya: Reduction in Early Deaths and Treatment Abandonment

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background An earlier study on children diagnosed with acute lymphoblastic leukemia (ALL) at Moi Teaching and Referral Hospital (MTRH) in Kenya reported a low event‐free survival (EFS), excess treatment abandonment, and high induction mortality.
Gilbert Olbara   +7 more
wiley   +1 more source

Two Types of Etiological Mutation in the Limb-Specific Enhancer of Shh

open access: yesG3: Genes, Genomes, Genetics, 2017
An enhancer named MFCS1 regulates Sonic hedgehog (Shh) expression in the posterior mesenchyme of limb buds. Several mutations in MFCS1 induce ectopic Shh expression in the anterior limb bud, and these result in preaxial polydactyly (PPD).
Takanori Amano   +3 more
doaj   +1 more source

ASSIST: Refinement of a Benefits Navigator Intervention Among Low‐Income Pediatric Oncology Families

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Children with cancer living in poverty experience worse survival and quality of life. Interventions connecting low‐income families to benefits (e.g., Supplemental Nutrition Assistance Program [SNAP] improve health outcomes; yet nearly 50% of SNAP‐eligible pediatric oncology families are unenrolled.
Puja J. Umaretiya   +11 more
wiley   +1 more source

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

open access: yesCell, 2020
Summary Establishing causal links between non-coding variants and human phenotypes is an increasing challenge. Here we introduce a high-throughput mouse reporter assay for assessing the pathogenic potential of human enhancer variants in vivo and examine ...
Evgeny Z. Kvon   +26 more
semanticscholar   +1 more source

Misperception of Body Weight After Childhood Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Misperception of body weight can negatively impact the weight management efforts of childhood cancer survivors (CCSs). Both being overweight or underweight are associated with chronic health conditions commonly observed in CCS; therefore, accurate weight perception is critical for reducing long‐term health risks.
Fabiën N. Belle   +8 more
wiley   +1 more source

Enhancer Profiling Reveals a Protective Role of RXRα Against Calcium Oxalate‐Induced Crystal Deposition and Kidney Injury

open access: yesAdvanced Science
During the formation of kidney stones, the interaction between crystals and tubular epithelial cells (TECs) leads to tubular injury and dysfunction, which in turn promote stone formation. However, the molecular mechanisms underlying these changes in TECs
Yu Yang   +12 more
doaj   +1 more source

Multiancestry association study identifies new asthma risk loci that colocalize with immune cell enhancer marks

open access: yesNature Genetics, 2017
We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations.
F. Demenais   +175 more
semanticscholar   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan   +18 more
wiley   +1 more source

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