Results 81 to 90 of about 6,119 (218)

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

Barrow of the Copper and Bronze Ages near the Village of Suvorovo, Odessa County

Tyragetia, 2013
The article considers materials from a barrow excavated in 1995-1997 in the vicinity of the village of Suvorovo in the tract of Kale (Izmail District, Odessa County). Five graves and some stone and earth structures were uncovered in the barrow.
Nicolae Russev, Mihail Fokeev, Igori Manzura   +2 more
doaj  

The Late Bronze Age settlement site of Březnice: Magnetometer survey data. [PDF]

Data Brief, 2021
Kuna M, Křivánek R, Chvojka O, Šálková T.   +3 more
europepmc   +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

BALEY: New Discoveries

Българско е-Списание за Археология, 2011
The village of Baley, NW Bulgaria, is located on the Timok river, 3 km away from the Danube river. Rumen Katincharov (NAIM-BAS) and Anna Iotsova (RIM-Vidin) excavated a prehistoric settlement with remnants of the Late Bronze and Early Iron Age between ...
Stefan Alexandrov, Georgi Ivanov, Tania Hristova   +2 more
doaj  

Salorno-Dos de la Forca (Adige Valley, Northern Italy): A unique cremation site of the Late Bronze Age. [PDF]

PLoS One, 2022
Crivellaro F, Cavazzuti C, Candilio F, Coppa A, Tecchiati U.   +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

Tin from Uluburun shipwreck shows small-scale commodity exchange fueled continental tin supply across Late Bronze Age Eurasia. [PDF]

Sci Adv, 2022
Powell W, Frachetti M, Pulak C, Bankoff HA, Barjamovic G, Johnson M, Mathur R, Pigott VC, Price M, Yener KA.   +9 more
europepmc   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Premier hameau de l’âge du Bronze final en Bretagne

Archéopages, 2015
Mélanie Levan
doaj   +1 more source