Results 81 to 90 of about 1,239,617 (330)

UvA-DARE (Digital Academic Repository) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism Link to publication Citation for published version (APA): INACTIVATING MUTATIONS IN THE GENE FOR THYROID OXIDASE 2 ( THOX

, 2020
. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England journal of medicine, 347(2), 95-102.
Mutations, Congenital
core   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review

Frontiers in Pediatrics, 2020
Background: The phenotypes of TRPC6 mutations have been reported mainly in familial and sporadic focal segmental glomerulosclerosis (FSGS), which can occur in both adults and children.
Meiqiu Wang, Ren Wang, Xu He, Min Yu, Min Yu, Zhengkun Xia, Chunlin Gao   +6 more
doaj   +1 more source

Spontaneous mutations suppressing ΔmpfA magnesium sensitivity.

, 2019
Spontaneous mutations suppressing ΔmpfA magnesium sensitivity.
Joshua Armitano (7252490), Patrick Linder (7345), Peter Redder (528225), Emilie Trachsel (7252487)   +3 more
core   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Spontaneous temperature-sensitive mutations in bacteriophage T7.

, 1985
Attempts to recover temperature-sensitive mutations affecting genes 13 and 14 (virion proteins) in bacteriophage T7 by analysis of amber revertants were confounded by the frequent occurrence of spontaneous temperature-sensitive mutations in other ...
Stone, J C, Miller, R C
core   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Exercise training corrects control of spontaneous calcium waves in hearts from myocardial infarction heart failure rats [PDF]

, 2011
Impaired cardiac control of intracellular diastolic Ca²⁺ gives rise to arrhythmias. Whereas exercise training corrects abnormal cyclic Ca²⁺ handling in heart failure, the effect on diastolic Ca<sup>2 ...
Kemi, Ole J., Wisloff, Ulrik, Morten A. Hoydal, MacQuaide, Niall, Godfrey L. Smith, Hoydal, Morten A., Smith, Godfrey L., Ellingsen, Oyvind, Oyvind Ellingsen, Smith, Godfrey L, Niall MacQuaide, Ole J. Kemi, Ulrik Wisloff   +12 more
core   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source