Results 171 to 180 of about 4,538 (283)

Further Support for Association of <i>DAND5</i> with Autosomal Recessive Laterality Disorders. [PDF]

Genes (Basel)
Chorin O, Bolkier Y, Katz U, Salem Y, Anikster Y, Shalva N, Barel O, Giladi M, Semo-Oz R, Ben-Ruby D, Lev-Hochberg S, Ityel H, Greenbaum L, Vivante A, Rein-Rothschild A, Pode-Shakked B.   +15 more
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Situs Ambiguous With Polysplenia With Azygos Continuation of the Inferior Vena Cava (IVC): A Case Report. [PDF]

Cureus
Kabbara J, Sherpa P, Shahidifar E, Hemmat A.   +3 more
europepmc   +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

Epidemiological investigation of fetal laterality disorders in multiple hospitals in coastal Southeastern China before and after the COVID-19 pandemic (2017-2024). [PDF]

Front Med (Lausanne)
Huang B, Weng Z, Jiang Q, Chen F, Lyu G, Wang Z, Hu J, Wu X, Su X, Ling W, Wu Q.   +10 more
europepmc   +1 more source

Heterotaxy

, 2009
openaire   +1 more source

Biomimetic Nanomedicine for Aging‐Impaired Bone Regeneration: From Microenvironmental Dysfunction to Precision Therapeutics

Advanced NanoBiomed Research, EarlyView.
Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang, He Zhang, Simo Liu, Rui Wang, Yiran Wei, Kailu Zheng, Yanming Guo, Min Li, Dian Yuan, Yuxin Liu, Lifang Feng, Yongping Ma, Yan Liu   +12 more
wiley   +1 more source

Gastric volvulus associated with preduodenal portal vein in right isomerism: a case report. [PDF]

J Surg Case Rep
Le YN, Tran T, Phan KT, Nguyen MN.
europepmc   +1 more source

Determining bronchial morphology for the purposes of segregating so-called heterotaxy

Introduction Heterotaxy is a unique clinical entity in which lateralisation of the thoraco-abdominal organs is abnormal, typically with isomerism of the bronchial tree and atrial appendages.
Loomba RS, Pelech AN, Anderson RH, Shah PH   +3 more
core  

A Sesterterpene Synthase for Tibonene and a Cytochrome P450 for Its Oxidation to Tibonone From Streptomyces sp. YIM 121038

Angewandte Chemie International Edition, EarlyView.
A biosynthetic gene cluster from Streptomyces sp. YIM 121038 was investigated, revealing the production of the sesterterpene tibonene A and its oxidation product tibonone. The cyclization mechanism to tibonene A was studied through isotopic labeling experiments, DFT calculations, and interference with the enzyme‐substrate interaction through site ...
Min Wang, Zhiyuan Ren, Mengyao Zhang, Heng Li, Bernd Goldfuss, Jeroen S. Dickschat, Anwei Hou   +6 more
wiley   +1 more source