Results 101 to 110 of about 5,873,224 (308)

Deubiquitination of Vangl by USP6 and USP32 Regulates Planar Cell Polarity Signaling

Advanced Science, EarlyView.
Compartment‐specific deubiquitination controls Vangl dosage and planar cell polarity signaling. USP6 and USP32 regulate distinct subcellular pools of Vangl by removing distinct ubiquitin modifications from Vangl proteins. This regulatory mechanism safeguards PCP‐dependent embryonic morphogenesis, while aberrant USP32‐dependent stabilization of VANGL ...
Fangzi Zha, Di Feng, Ziru Xue, Zhiying Liu, Xiaochen Lin, Zhe Wang, Ling Xu, Jasper Fuk Woo Chan, Martin Cheung, Michael Shing Yan Huen, Yusong Guo, Kui Ming Chan, Yun Liu, Bo Gao   +13 more
wiley   +1 more source

Perspective on Similarities and Possible Overlaps of Congenital Disease Formation-Exemplified on a Case of Congenital Diaphragmatic Hernia and Neuroblastoma in a Neonate. [PDF]

Children (Basel), 2021
Huo Z, Bilang R, Brantner B, von der Weid N, Holland-Cunz SG, Gros SJ.   +5 more
europepmc   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Pulmonary arterial hypertension with left to right shunts: When to treat and/or close?

International Journal of Cardiology Congenital Heart Disease
Pulmonary arterial hypertension (PAH) is defined as increase in mean pulmonary arterial pressure and pulmonary vascular resistance (PVR). It can be associated with congenital heart disease (CHD) with the following subtypes: 1) uncorrected left-to-right ...
Michele D'Alto, Emanuele Romeo, Paola Argiento, Andrea Vergara, Eleonora Caiazza, Antonio Orlando, Rosa Franzese, Giancarlo Scognamiglio, Berardo Sarubbi, Konstantinos Dimopoulos   +9 more
doaj   +1 more source

Case Report: Multi-Orifices Vertebral Arteriovenous Fistula With Severe Scoliosis in Neurofibromatosis Type 1: Might Be a Congenital Disease With Mesodermal Dysplasia. [PDF]

Front Neurol, 2021
Wang Y, Yuan C, Shen S, Zhang Y, Zhang J, Duan H.   +5 more
europepmc   +1 more source

Geographic variation and localised clustering of congenital anomalies in Great Britain [PDF]

, 2007
Background Environmental pollution as a cause of congenital anomalies is sometimes suspected because of clustering of anomalies in areas of higher exposure.
Grundy C, Wellesley, D, Loane, M, Dolk Helen, Rankin Judith, Loane Maria, Rankin, Judith, Stone David, Loane M, Wellesley, D., Stone, D, Abramsky L, Stone, David, Pattenden, S., Armstrong, B.G., Dunn, C.E., Pattenden S, Armstrong BG, Armstrong, Ben G, Dolk, H, Dolk, H., Armstrong Ben G, Grundy, C., Boyd Patricia A, Boyd, Patricia A, Armstrong, B, Rankin, J., Boyd, P, Dunn, Chris E, Dunn CE, Loane, M., Wellesley, Diana, Boyd PA, Vrijheid, M., Stone, D., Grundy Chris, Vrijheid Martine, Dolk H, Abramsky, L, Stone D, Abramsky, Lenore, Abramsky Lenore, Vrijheid M, Grundy, C, Vrijheid, Martine, Grundy, Chris, Dolk, Helen, Boyd, P.A., Pattenden Sam, Wellesley Diana, Pattenden, Sam, Wellesley D, Dunn Chris E, Abramsky, L., Dunn, C, Pattenden, S, Boyd, P., Loane, Maria, Rankin J, Rankin, J   +59 more
core   +1 more source

Highly‐Time‐Resolved Measurements of Tryptophan's Distribution and Homeostatic Regulation in Live, Intact Animals

Advanced Science, EarlyView.
Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu, Chelsea N. Brown, Zeki Duman, Rose Mery Bakestani, Carl M. Kirkpatrick, Joao Hespanha, Tod Kippin, Kevin W. Plaxco   +7 more
wiley   +1 more source

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Mitochondrial Dysfunction in Congenital Heart Disease

Mitochondria play a crucial role in multiple cellular processes such as energy metabolism, generation of reactive oxygen species, excitation–contraction coupling, cell survival and death.
Mariana Casa de Vito, Julie Pires Da Silva, Carissa Miyano, Carmen C. Sucharov   +3 more
core   +1 more source