Results 201 to 210 of about 24,199 (262)

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

Reorganizing the RNA polymerase II complex for replication of an infectious noncoding RNA in vivo. [PDF]

PLoS Pathog
Hao J, Qin Z, Ma J, Qu J, Wang Y, Folimonova SY, Liu B, Li W, Wang Y.   +8 more
europepmc   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

RPE With ROCK-Mediated Epithelial-Mesenchymal Transition as a Key Contributor of Subretinal Fibrosis in AMD. [PDF]

Invest Ophthalmol Vis Sci
Wada I, Ishikawa K, Yamaguchi M, Shimokawa S, Rui J, Mori K, Kaizu Y, Arima M, Notomi S, Murakami Y, Inagaki S, Kohro Y, Tsuda M, Shibata K, Terao R, Terabayashi T, Ishizaki T, Yoshida S, Ishibashi T, Ishida S, Apte RS, Sonoda KH, Nakao S.   +22 more
europepmc   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source

Identification of LncRNAs scaffolding a chromatin-associated gene regulatory complex in breast cancer cells comprising ERα, DOT1L and menin. [PDF]

Cell Commun Signal
Melone V, Salvati A, Palo L, Palumbo D, Memoli D, Ianniello M, Nikzaban M, Casaburi A, Lamberti J, Rizzo F, Weisz A, Nassa G, Tarallo R.   +12 more
europepmc   +1 more source

CircAFF4 inhibits lung cancer progression via destabilizing GPX4 and triggering ferroptosis. [PDF]

Biol Direct
Wang J, Xin S, Zhang C, Xie N, Kong P, Yu Y.   +5 more
europepmc   +1 more source

LncRNA MCM3AP-AS1 is a potential prognostic marker for osteosarcoma and promotes its development by targeting miR-205-5p. [PDF]

Discov Oncol
Liu Y, Wang M, Wang GG, Huang LN, Chen W.   +4 more
europepmc   +1 more source

ADAR1-circRAB5A-BIP axis governs radiotherapy resistance in colorectal cancer through coordinating protective autophagy and apoptosis. [PDF]

Cancer Biol Ther
Chen W, Zhang X, Zhao Z, Xin W, Li J, Che X.   +5 more
europepmc   +1 more source

Silencing of METTL16 protects granulosa cells from the cisplatin-induced ferroptosis in premature ovarian failure. [PDF]

Cell Death Discov
Xiong J, He L, Zhang Y, Li L.
europepmc   +1 more source