Data from: Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D’Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A. Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, V. Gaurav Harlalka, Michel Michaelides, Anthony T. Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R. Lupski … & Frans P. M. Cremers
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules within the ER lumen, while siRNA knockdown of CLCC1 mRNA induced apoptosis in cultured ARPE-19 cells. TALEN KO in zebrafish was lethal 11 days post...
Data from: Lysine-14 acetylation of histone H3 in chromatin confers resistance to the deacetylase and demethylase activities of an epigenetic silencing complexMingxuan Wu, Dawn Hayward, Jay H. Kalin, Yun Song, John W.R. Schwabe, Philip A. Cole & John WR Schwabe
The core CoREST complex (LHC) contains histone deacetylase HDAC1 and histone demethylase LSD1 held together by the scaffold protein CoREST. Here we analyze the purified LHC with modified peptide and reconstituted semisynthetic mononucleosome substrates. LHC demethylase activity toward methyl-Lys4 in histone H3 is strongly inhibited by H3 Lys14 acetylation, and this appears to be an intrinsic property of the LSD1 subunit. Moreover, the deacetylase selectivity of LHC unexpectedly shows a marked preference for H3 acetyl-Lys9...
Objective: To evaluate the association of cognitive declines in the domains of memory, language, and executive function with brain gray matter (GM) volume in old age. Methods: Prospective study of 1,846 participants in the Atherosclerosis Risk in Communities (ARIC) study who underwent 3T brain MRI scans in 2011-2013. Participants were categorized by cognitive domain performance trajectory over the prior 20 years (cut-point to define decline: 20th percentile). Associations between GM volume and cognitive declines were...
Background: South Africa (SA) has the highest burden of HIV infection in the world. Even though HIV testing is mandated in all hospital-based facilities in SA, it is rarely implemented in the emergency department (ED). EDs are episodic care centers that provide care to large volumes of undifferentiated patients for short periods of time, and may treat undiagnosed HIV-infected patients not captured through standard clinic based screenings. Methods and Findings: In this prospective study, we...
Data from: The tetrapod fauna of the upper Permian Naobaogou Formation of China: a new species of Elginia (Parareptilia, Pareiasauria)Jun Liu & Gabriel S. Bever
The pareiasaur fossil record in China is poor compared to that of Russia or South Africa. A new pareiasaur specimen is here reported from the upper Permian Naobaogou Formation of the Daqing Mountains, Nei Mongol, China. It is recognized as a new species of Elginia, a taxon otherwise known only from the upper Permian Cutties Hillock Sandstone of Scotland. Diagnostic features include a moderately developed cheek flange; prominent otic notch (formed between squamosal and quadratojugal...
Objective. The amyloid/tau/neurodegeneration (ATN) research framework for Alzheimer’s disease (AD) was proposed to organize AD biomarkers and to stage AD across its preclinical and symptomatic phases. Applying this framework requires a large number of participants since the framework envisions eight biomarker profiles. This study examined the long-term cognitive trajectories of individuals with normal cognition at baseline and distinct ATN profiles. Methods. Pooling data across four cohort studies, 814 cognitively normal participants (mean baseline age=59·6 years)...
Objective: To assess the inpatient hospitalization burden and costs of patients with autoimmune encephalitis (AE) at a tertiary care institution. Methods: Adult inpatients with AE were identified retrospectively from July 1, 2005 – June 30, 2015. Demographic and clinical data were collected and analyzed. Billing data were compared to that of patients with herpes simplex encephalitis (HSE). Charges were adjusted for inflation. Results: Of 244 admissions for encephalitis reviewed, 63 patients met criteria for probable...
Background: There is strong association of Alzheimer's disease (AD) pathology with gait disorder and falls in older adults without dementia. The goal of the study was to examine the prevalence and severity of AD pathology in older adults without dementia who fall and sustain hip fracture. Methods: Cerebrospinal fluid (CSF) was obtained from 168 hip fracture patients. CSF Aβ42/40 ratio, p-tau, and t-tau measures were dichotomized into normal vs. abnormal, and categorized according to the...
Johns Hopkins University School of Medicine8
Institute of Vertebrate Paleontology and Paleoanthropology1
COMSATS Institute of Information Technology1
Johns Hopkins University1
University of the Punjab1
University of California, San Diego1
Radboud University Nijmegen1
National Institutes of Health1
University of Melbourne1
University of Southampton1