Results 51 to 60 of about 54,392 (259)

Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase

Advanced Science, EarlyView.
GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko, Dongyoon Shin, Junho Park, June Huh, Youngsoo Kim, Jong‐Wan Park   +5 more
wiley   +1 more source

Zika-Induced Microcephaly and Neurodevelopment

, 2018
Zika virus [ZV] infection in pregnancy causes microcephaly in the developing fetus. The cause and effect relationship is well established through human case studies and experimental models. The fetal neural tissue development is markedly disrupted by the
Shafique, Sidra
core   +1 more source

The Interplay Between Molybdopterin Synthase and Metal Metabolism Contributes to Pathogenicity in Acinetobacter baumannii

Advanced Science, EarlyView.
Pathogenic Acinetobacter baumannii scavenges metal ions as nutritional elements to survive within the host. This study demonstrates that molybdopterin synthase is essential for pathogenesis and full virulence during infection. Molybdopterin synthase subunit MoaE constitutes an intrinsically disordered C‐terminal histidine rich tail, which mediates ...
Min Jiao, Wenbo He, Zhenlin Ouyang, Ruochen Wang, Jiaxin Zhang, Xin Liu, Yiting Jing, Qinyue Yu, Xiaoyu He, Qian Qin, Litao Guo, Peter M. Hwang, Fang Zheng, Yurong Wen   +13 more
wiley   +1 more source

[Microcephaly].

Medicina, 2019
Microcephaly is defined as a head circumference more than two standard deviations below the mean for gender and age. It is an important neurological sign and predictor of future disability. One of its diagnostic difficulties lies in the ranks of the head circumference reference against which we measure each child.
Robin D. Clark, Cynthia J. Curry
  +5 more sources

Congenital microcephaly unrelated to flavivirus exposure in coastal Kenya [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research, 2019
Background: Zika virus (ZIKV) was first discovered in East Africa in 1947.  ZIKV has caused microcephaly in the Americas, but it is not known whether ZIKV is a cause of microcephaly in East Africa.
Hellen C. Barsosio, John N. Gitonga, Henry K. Karanja, Doris K. Nyamwaya, Donwilliams O. Omuoyo, Everlyn Kamau, Mainga M. Hamaluba, Joyce U. Nyiro, Barnes S. Kitsao, Amek Nyaguara, Stella Mwakio, Charles R. Newton, Rosemary Sang, Daniel Wright, Eduard J. Sanders, Anna C. Seale, Charles N. Agoti, James A. Berkley, Philip Bejon, George M. Warimwe   +19 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

MFSD2A frameshift variant in Kerry Hill sheep with microcephaly. [PDF]

Microcephaly is a rare neurodevelopmental disorder characterized by reduced skull circumference and brain volume that occurs sporadically in farm animals. We investigated an early-onset neurodegenerative disorder observed in seven lambs of purebred Kerry
Rudd Garces, Gabriela, Häfliger, Irene M, Wagner, Henrik, Herden, Christiane, Lühken, Gesine, Nesseler, Anne, Drögemüller, Cord, Letko, Anna, Müller, Jana, Schmidt, Martin J   +9 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Prevalence of Antibodies to Zika Virus in Mothers from Hawaii Who Delivered Babies with and without Microcephaly between 2009-2012.

PLoS Neglected Tropical Diseases, 2016
Zika virus (ZIKV) is an emerging mosquito-borne pathogen. ZIKV infection is linked to the development of severe fetal abnormalities that include spontaneous abortion, stillbirth, hydranencephaly, and microcephaly. ZIKV outbreaks have been recorded in the
Mukesh Kumar, Lauren Ching, Joshua Astern, Eunjung Lim, Alexander J Stokes, Marian Melish, Vivek R Nerurkar   +6 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source