Results 141 to 150 of about 4,715,625 (390)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Hedgehog Signaling Pathway and Autophagy in Cancer

International Journal of Molecular Sciences, 2018
Hedgehog (Hh) pathway controls complex developmental processes in vertebrates. Abnormal activation of Hh pathway is responsible for tumorigenesis and maintenance of multiple cancers, and thus addressing this represents promising therapeutic opportunities.
Xian Zeng, D. Ju
semanticscholar   +1 more source

Mitogen-activated kinase kinase kinase 1 inhibits hedgehog signaling and medulloblastoma growth through GLI1 phosphorylation [PDF]

, 2019
The aberrant activation of hedgehog (HH) signaling is a leading cause of the development of medulloblastoma, a pediatric tumor of the cerebellum. The FDA‑approved HH inhibitor, Vismodegib, which targets the transmembrane transducer SMO, has shown limited
Agostinelli, Enzo, Antonucci, Laura, Bordone, Rosa, Caimano, Miriam, Canettieri, Gianluca, Capalbo, Carlo, Checquolo, Saula, Coni, Sonia, D'Amico, Davide, De Smaele, Enrico, Di Magno, Laura, Di Marcotullio, Lucia, Di Pastena, Fiorella, Giorgi, Alessandra, Manni, Simona, Maroder, Marella, Petroni, Marialaura, Schininà, Maria Eugenia, Serrao, Silvia Maria, Yates Iii, John R, Yurtsever, Zuleyha Nihan   +20 more
core   +1 more source

Nanostructured Biomaterial‐Based Approaches to Support Induced Pluripotent Stem Cell Differentiation

Advanced NanoBiomed Research, EarlyView.
Induced pluripotent stem cells (iPSCs), reprogrammed from adult somatic cells, represent an innovative approach for regenerative medicine and biomedical applications. This review highlights the importance of nanostructured biomaterials, utilized as delivery systems or scaffolds, in supporting iPSC differentiation and fate through structural and ...
Beatriz A. B. R. Passos, Matteo Battaglini, Gianni Ciofani   +2 more
wiley   +1 more source

Attenuation of hedgehog/GLI signaling by NT1721 extends survival in pancreatic cancer. [PDF]

, 2019
BackgroundPancreatic cancer is one of the most lethal malignancies due to frequent late diagnosis, aggressive tumor growth and metastasis formation.
Horne, David A, Kowolik, Claudia M, Lin, Min, Overman, Larry E, Xie, Jun   +4 more
core   +1 more source

Is cranial anatomy indicative of fossoriality? A case study of the mammaliaform Hadrocodium wui

The Anatomical Record, EarlyView.
Abstract Determining the ecology of fossil species presents considerable challenges due to the often fragmentary preservation of specimens. The mammaliaform Hadrocodium wui from the Jurassic of China is known only from the cranium and mandible but may have had a fossorial lifestyle.
Molly Tumelty, Stephan Lautenschlager
wiley   +1 more source

Rare coding SNP in DZIP1 gene associated with late-onset sporadic Parkinson's disease [PDF]

, 2011
We present the first application of the hypothesis-rich mathematical theory to genome-wide association data. The Hamza et al. late-onset sporadic Parkinson's disease genome-wide association study dataset was analyzed.
A Lerner, A Ruepp, AA Merchant, AM Glazer, B Bakir-Gungor, B Dass, C Wolff, CB Do, CH Hawkes, D Subramaniam, DAD Monte, DI Chasman, E Eskin, FL Moore, H-C Fung, HR Kim, J Simón-Sánchez, K Lai, K Roeder, K Roeder, K Roeder, K Sekimizu, K Tsuboi, L Lum, LA Hindorff, LM Bekris, M Bak, M Plaisant, M Saad, M-X Li, N Miao, O Bragina, P Mill, P Whitton, PA Beachy, PW Ingham, RE Lamont, S Purcell, SM Chambers, SY Tay, TA Manolio, TH Hamza, TL Edwards, TS Keshava Prasad, V Palma, VF Rafuse, W Satake, Y Katoh   +47 more
core   +3 more sources

Decoding regulatory programs underlying placode and dermal condensate cell fate commitment during hair follicle induction via single‐cell multi‐omics analysis

Animal Research and One Health, EarlyView.
The experimental framework of the study encompasses sample collection, single‐cell data analysis, and experimental validation. Abstract Understanding differences in chromatin state and changes in gene regulatory landscape of placode (Pc) and dermal condensate are crucial for decoding hair follicle (HF) morphogenesis programs.
Fang Li, Minghao Li, Tongtong Zhang, Menghua Sui, Hasan Khatib, Xin Wang   +5 more
wiley   +1 more source

A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies

Nature Genetics, 2017
Primary cilia organize Hedgehog signaling and shape embryonic development, and their dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic screen for Hedgehog signaling by engineering antibiotic-based selection of ...
David K. Breslow, S. Hoogendoorn, A. Kopp, D. Morgens, Brandon K. Vu, Margaret C. Kennedy, K. Han, Amy Li, Gaelen T. Hess, M. Bassik, James K. Chen, M. Nachury   +11 more
semanticscholar   +1 more source

Expanded progenitor populations, vitreo-retinal abnormalities, and Müller glial reactivity in the zebrafish leprechaun/patched2 retina [PDF]

, 2009
Jonathan Bibliowicz and Jeffery M. Gross are with the Section of Molecular Cell and Developmental Biology, The University of Texas at Austin, Austin, TX, USA, and the Institute of Cell and Molecular Biology, The University of Texas at Austin, Austin, TX,
Bibliowicz, Jonathan, Gross, Jeffrey M.
core   +3 more sources