User profiles for Lauren J. Francey

Lauren J Francey

Beth Israel Deaconess Medical Center
Verified email at bidmc.harvard.edu
Cited by 2738

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

…, C Decroos, N Di Donato, S Ernst, LJ Francey… - Nature, 2012 - nature.com
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation
disorder, caused by mutations in the cohesin-loading protein NIPBL 1 , 2 for nearly 60% of …

A database of tissue-specific rhythmically expressed human genes has potential applications in circadian medicine

…, G Wu, DF Smith, RE Schmidt, LJ Francey… - Science translational …, 2018 - science.org
The discovery that half of the mammalian protein-coding genome is regulated by the circadian
clock has clear implications for medicine. Recent studies demonstrated that the circadian …

Guidelines for genome-scale analysis of biological rhythms

…, GA FitzGerald, DB Forger, LJ Francey… - Journal of biological …, 2017 - journals.sagepub.com
Genome biology approaches have made enormous contributions to our understanding of
biological rhythms, particularly in identifying outputs of the clock, including RNAs, proteins, and …

CYCLOPS reveals human transcriptional rhythms in health and disease

…, LJ Francey, JB Hogenesch, J Kim - Proceedings of the …, 2017 - National Acad Sciences
Circadian rhythms modulate many aspects of physiology. Knowledge of the molecular basis
of these rhythms has exploded in the last 20 years. However, most of these data are from …

[PDF][PDF] Clock regulation of metabolites reveals coupling between transcription and metabolism

…, A Venkataraman, AO Olarerin-George, LJ Francey… - Cell metabolism, 2017 - cell.com
The intricate connection between the circadian clock and metabolism remains poorly
understood. We used high temporal resolution metabolite profiling to explore clock regulation of …

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …

…, S Ernst, JC Ferreira, LJ Francey… - Human molecular …, 2014 - academic.oup.com
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies,
growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological …

[HTML][HTML] Mechanistic insights into the events that lead to synergistic induction of interleukin 6 transcription upon activation of the aryl hydrocarbon receptor and …

BC DiNatale, JC Schroeder, LJ Francey… - Journal of biological …, 2010 - ASBMB
The aryl hydrocarbon receptor (AHR) is the ligand-activated transcription factor responsible
for mediating the toxicological effects of dioxin and xenobiotic metabolism. However, recent …

Population-level rhythms in human skin with implications for circadian medicine

…, MD Ruben, RE Schmidt, LJ Francey… - Proceedings of the …, 2018 - National Acad Sciences
Skin is the largest organ in the body and serves important barrier, regulatory, and sensory
functions. The epidermal layer shows rhythmic physiological responses to daily environmental …

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

LJ Francey, LK Conlin, HE Kadesch… - American journal of …, 2012 - Wiley Online Library
Hearing loss is the most prevalent sensory perception deficit in humans, affecting 1/500
newborns, can be syndromic or nonsyndromic and is genetically heterogeneous. Nearly 80% of …

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections

…, Q Wang, J Li, L Li, C Choi, AD Yzaguirre, LJ Francey… - Nature medicine, 2013 - nature.com
Total anomalous pulmonary venous connection (TAPVC) is a potentially lethal congenital
disorder that occurs when the pulmonary veins do not connect normally to the left atrium, …