Results 61 to 70 of about 45,554 (278)

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Challenges in molecular diagnosis of X-linked Intellectual disability.

British Medical Bulletin, 2020
BACKGROUND Intellectual disability (ID) affects 1-3% of the Western population and is heterogeneous in origin. Mutations in X-linked genes represent 5-10% of ID in males.
C. D. De Luca, V. Race, L. Keldermans, Marijke Bauters, H. Van Esch   +4 more
semanticscholar   +1 more source

Modulating Two‐Photon Absorption in a Pyrene‐Based MOF Series: An In‐Depth Investigation of Structure–Property Relationships

Advanced Functional Materials, EarlyView.
This study investigates H4TBAPy‐based metal–organic frameworks (MOFs) ‐ NU‐1000, NU‐901, SrTBAPy, and BaTBAPy ‐ for multiphoton absorption (MPA) performance. It observes topology‐dependent variations in the 2PA cross‐section, with BaTBAPy exhibiting the highest activity.
Simon N. Deger, Helmy Pacheco Hernandez, Yang Cui, Hongxing Hao, Vanessa Ramm, David C. Mayer, Khai‐Nghi Truong, Roland A. Fischer, Jürgen Hauer, Mariana Kozlowska, Alexander Pöthig   +10 more
wiley   +1 more source

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review

Frontiers in Pediatrics, 2022
BackgroundAlpha-thalassemia/intellectual disability syndrome (ATR-X) (OMIM # 301040) was first described by Wilkie et al. (1). Several studies found that children who presented with significantly consistent clinical phenotypes of hemoglobin H (Hb H ...
Yan Cong, Jie Wu, Hao Wang, Ke Wu, Cui Huang, Xuejian Yang   +5 more
doaj   +1 more source

Bioactive Conductive Ti3C2Tx‐Ce Hydrogel Facilitates Spinal Cord Injury Repair Through ROS Scavenging and Mitochondrial Regulation

Advanced Functional Materials, EarlyView.
Bioactive conductive Ti3C2Tx‐Ce hydrogels with with scavenging ROS and alleviating neuronal mitochondrial dysfunction are exploited for SCI treatment. This functionality is attributed to interfacial activation modification of Ti3C2Tx with Ce3+ ions to in‐situ form Ce(OH)x‐mediated protective layer, which is beneficial to enabling stable intracellular ...
Weikang Wang, Qing Liu, Ang Lv, Yabin Lin, Jiawei Chen, Ning Ding, Chunlei Zhang, Shuai Zhou, Bo Yuan, Weiwei Zhao, Liming Li, Luping Zhang, Fei Huang   +12 more
wiley   +1 more source

Bioprinting Organs—Science or Fiction?—A Review From Students to Students

Advanced Healthcare Materials, EarlyView.
Bioprinting artificial organs has the potential to revolutionize the medical field. This is a comprehensive review of the bioprinting workflow delving into the latest advancements in bioinks, materials and bioprinting techniques, exploring the critical stages of tissue maturation and functionality.
Nicoletta Murenu, Camilla Mussoni, Mateo S. Andrade Mier, Paula Buettner, Nathaly Chicaiza‐Cabezas, Yi‐Yu Robin Dai, Jessica Faber, Maren Fiedler, Zan Lamberger, Xuen Jen Ng, Vanessa Moessler, Anna Rederer, Jonas Roeder, Sabrina Stecher, Katinka Theis, Jeanette Weigelt, Silvia Budday, Gregor Lang, Natascha Schaefer   +18 more
wiley   +1 more source

A family case of a rare Xq28 duplication

Вавиловский журнал генетики и селекции
Genetic factors contribute to the etiology of intellectual disability in 25–50 % of cases. Chromosomal abnormalities, such as microdeletions and microduplications, are the most significant genetic causes. We examined a family where two boys, aged 8 and 7,
A. E. Kopytova, E. N. Tolmacheva, D. A. Emelina, O. S. Glotov, V. V. Miroshnikova, T. S. Usenko, O. Yu. Vasilyeva, E. D. Kasyanov, E. A. Fonova, I. V. Makarov, A. D. Lobanov, G. E. Mazo, S. N. Pchelina, I. N. Lebedev   +13 more
doaj   +1 more source

Hydrocolloid‐Based Multiwavelength Stretchable QD‐OLED Patch for Simultaneous Neonatal Jaundice and Dermatitis Treatment with Biosignal Monitoring

Advanced Healthcare Materials, EarlyView.
Comparison of therapeutic and diagnostic applications of a surface‐emitting light source with multiwavelength emission characteristics. Abstract Conventional light‐emitting‐diode‐based light sources suffer from rigidity, localized heating, and poor adaptability to skin deformation, limiting their use in skin‐attached medical devices.
In Ho Kim, Young Woo Kim, Jae‐Young Jeong, Ye Ji Shin, Chaeyeong Lee, Jae Gyun Choi, Oh Kwan Kwon, Kyoung Hwa Kim, Sang Jik Kwon, Eou‐Sik Cho, Yongmin Jeon   +10 more
wiley   +1 more source

Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities

Journal of Neurodevelopmental Disorders
X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females.
Dayne Martinez, Evan Jiang, Zhaolan Zhou
doaj   +1 more source