Results 51 to 60 of about 16,075 (272)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Burn Severity in Canada's Mountain National Parks: Patterns, Drivers, and Predictions

Geophysical Research Letters, 2022
Fine‐scale estimation of burn severity in the Canadian Rocky Mountain region with mixed‐severity fires is of substantial implications but still lacking.
Weiwei Wang, Xianli Wang, Wanli Wu, Futao Guo, Jane Park, Guangyu Wang   +5 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Near zero mortality in juvenile Pinus hartwegii Lindl. after a prescribed burn and comparison with mortality after a wildfire

iForest - Biogeosciences and Forestry, 2019
Fire is considered a relevant ecological factor, however, human alterations of fire regime facilitate more destructive wildfires. The aims of this work were to model probability of tree mortality and to identify the factors associated with leader shoot ...
Hernández-Correa R, Rodríguez-Trejo DA, Cruz-Reyes A   +2 more
doaj   +1 more source

The phenology of ticks and the effects of long-term prescribed burning on tick population dynamics in southwestern Georgia and northwestern Florida. [PDF]

PLoS ONE, 2014
Some tick populations have increased dramatically in the past several decades leading to an increase in the incidence and emergence of tick-borne diseases.
Elizabeth R Gleim, L Mike Conner, Roy D Berghaus, Michael L Levin, Galina E Zemtsova, Michael J Yabsley   +5 more
doaj   +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

‘Turkeys Cannot Vote for Christmas’: Why Epistemic Disobedience in an Anti‐Black World Matters

Australian Journal of Social Issues, EarlyView.
ABSTRACT Never in the history of global coloniality has the idea of epistemic disobedience been as important as in the 21st century. This is not only because the struggle for decolonisation has shifted from physical confrontation between the coloniser and the colonised into a battle of ideas but also because the former has deployed the idea of ...
Morgan Ndlovu
wiley   +1 more source

Can seasonal fire management reduce the risk of carbon loss from wildfires in a protected Guinea savanna?

Ecosphere, 2022
Fire is fundamental to the functioning of tropical savannas and routinely used as a management tool. Shifting prescribed burning from later to earlier in the growing season has the potential to reduce greenhouse gas emissions.
Joana Awuah, Stuart W. Smith, James D. M. Speed, Bente J. Graae   +3 more
doaj   +1 more source

Coherence‐Gated Wrapped‐Phase InSAR With Matrix‐Based Uncertainty Diagnostics for Burial‐Mound Hotspot Ranking (Sicily, Italy)

Archaeological Prospection, EarlyView.
ABSTRACT Burial mounds are key elements of Mediterranean funerary landscapes, but in intensively cultivated coastal plains their low‐relief expression is easily obscured by ploughing, levelling and rapidly changing surface conditions, making single‐date observations unreliable.
Salvatore Polverino, Hourakhsh Ahmadnia, Rokhsaneh Rahbarianyazd Ahmadnia   +2 more
wiley   +1 more source