Results 91 to 100 of about 7,781 (216)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Ancient genomes provide insights into family structure and the heredity of social status in the early Bronze Age of southeastern Europe. [PDF]

Sci Rep, 2021
Žegarac A, Winkelbach L, Blöcher J, Diekmann Y, Krečković Gavrilović M, Porčić M, Stojković B, Milašinović L, Schreiber M, Wegmann D, Veeramah KR, Stefanović S, Burger J.   +12 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Genetic transitions in the Neolithic and Bronze Age at Mas d’en Boixos (Catalonia, Spain)

iScience
Summary: Mas d’en Boixos is a key prehistoric site in Northeastern Iberia spanning from the Early Neolithic to the Late Iron Age. We analyzed genome-wide data from eight individuals and ten mitogenomes, dated to the Middle Neolithic and Early Bronze Age,
Xavier Roca-Rada, Daniel R. Cuesta-Aguirre, Diana C. Vinueza-Espinosa, Roberta Davidson, Shyamsundar Ravishankar, Leonard Taufik, Núria Armentano, Xavier Esteve, Yassine Souilmi, João C. Teixeira, Assumpció Malgosa, Bastien Llamas, Cristina Santos   +12 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

The function of the south-Levantine Late Chalcolithic and Early Bronze Age basalt vessels bearing circumferential depressions: Insights from use-wear analyses. [PDF]

PLoS One, 2021
Hruby K, Cendrowska M, Chasan R, Groman-Yaroslavski I, Rosenberg D.   +4 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Bronze Age settlement dynamics in a Central European river catchment—The Weiße Elster river (Central Germany)

Frontiers in Environmental Archaeology
The paper discusses the potentials and challenges of geoarchaeological research into long-term prehistoric settlement dynamics. As an example, the study employs a dataset of 367 Bronze Age sites from the Weiße Elster river catchment in Central Germany ...
Jan Johannes Miera, Jan Johannes Miera
doaj   +1 more source

Synergistic Effect on Enhanced Oil Recovery in High Salinity Carbonate Reservoirs Using a Novel PEI‐Functionalized Carbon Nanotube Nanocomposite

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Enhancing oil recovery (EOR) in mature reservoirs is hindered by high interfacial tension (IFT) and oil‐wet rock formations, especially under harsh, high‐salinity conditions. This study aims to overcome these limitations by synthesizing a novel carbon nanotube nanocomposite covalently grafted with polyethylenimine and non‐covalently ...
Mohamed Abu Shuheil, Dilipkumar S. Patel, N. Beemkumar, Tariq Abdulkader Alrihaim, Dhirendra Nath Thatoi, Ripendeep Singh, Rohit Kumar, Parminder Singh, Ahmad Khalid   +8 more
wiley   +1 more source

Rheological Properties of Carboxymethyl Cellulose Solutions and Gels: An Overview

Journal of Applied Polymer Science, EarlyView.
The rheology of carboxymethyl cellulose is determined by the balance between electrostatic interactions, chain entanglements and association of unsubstituted cellulose‐like domains. The degree of substitution, substitution pattern, added salt concentration and pH determine whether solutions behave as viscoelastic liquids or weak gels.
Carlos G. Lopez
wiley   +1 more source