Results 71 to 80 of about 1,217 (167)

Mandibulofacial dysostosis with microcephaly: mutation and database update [PDF]

, 2016
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.
Kline, Antonie D., Harr, Margaret H., Dijk, Fleur S, Center, UCLA Clinical Genomics, Mirzaa, Ghayda M., Boycott, Kym M., Barrowman, Nick, Favaro, Francine P., van Dijk, Fleur S., Scheuerle, Angela E, White, Sue M., Shears, Deborah J, Lildballe, Dorte L., Bulman, Dennis E, Silver, Josh, Hartley, Taila, Quintero‐Rivera, Fabiola, Morel, Chantal F, Meldrum, Cliff, Quintero-Rivera, Fabiola, Joss, Shelagh K., Gripp, Karen W, Pyle, Louise C, Shears, Deborah J., Smith, Amanda C., Smith, Amanda C, Temple, I. Karen, Morton, Jenny EV, Harr, Margaret H, Martinezmoles, Johanna, López‐González, Vanesa, Goel, Himanshu, Hunter, Alasdair GW, Pyle, Louise C., CareRare, Canada, Joss, Shelagh K, Lildballe, Dorte L, Guion-Almeida, Maria Leine, Consortium, Care4Rare Canada, Zou, Ruobing, Johnson, John, Kimball, Amy, van de Kamp, Jiddeke M., Faghfoury, Hanna, Guion‐Almeida, Maria‐Leine, Bulman, Dennis E., White, Sue M, Schönewolf‐Greulich, Bitten, Zackai, Elaine H, Gripp, Karen W., Dabir, Tabib A., Dipple, Katrina M, Dipple, Katrina M., Lauzon, Julie, Dabir, Tabib A, Boycott, Kym M, Gregersen, Pernille A, Kline, Antonie D, Vanstone, Megan R., Dobyns, William B., Hudson, Cindy, Zackai, Elaine H., Favaro, Francine P, Gregersen, Pernille A., Richer, Julie, López-González, Vanesa, Vandersteen, Anthony M., Morton, Jenny E.V., Kini, Usha, Estrella, Jane, Temple, I Karen, de Kamp, Jiddeke M, Grix, Art, Vanstone, Megan R, Schönewolf-Greulich, Bitten, Mirzaa, Ghayda M, Dobyns, William B, Osmond, Matthew, Vandersteen, Anthony M, Baker, Laura, Morel, Chantal F., Lines, Matthew A., Huang, Lijia, Guion-Almeida, Maria-Leine, Hunter, Alasdair G.W., Lines, Matthew A, Allanson, Judith, Scheuerle, Angela E.   +87 more
core   +2 more sources

TSC22D1 is a newly identified inhibitor of insulin secretion in pancreatic beta cells

The FEBS Journal, Volume 292, Issue 23, Page 6307-6329, December 2025.
TSC22D1 acts downstream of glucose signaling and negatively regulates insulin secretion in pancreatic beta cells. Mechanistically, TSC22D1 interacts with FoxO1. Elevated glucose levels enhance the TSC22D1–FoxO1 interaction indirectly by increasing the protein abundance of TSC22D1. Importantly, TSC22D1 and FoxO1 not only physically associate but also co‐
Sümbül Yıldırım, Amit Mhamane, Svenja Lösch, Annika Wieder, Ezgi Ermis, Ann‐Christine König, Sevgican Yilmaz, Stefanie M. Hauck, Fatih Kocabas, Julia Szendroedi, Stephan Herzig, Bilgen Ekim   +11 more
wiley   +1 more source

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

Frontiers in Genetics, 2020
BackgroundDefects in the development of the first and second pharyngeal arches and their derivatives result in abnormal formation of the craniofacial complex, consequently giving rise to facial dysostoses (FDs).
Ewelina Bukowska-Olech, Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Magdalena Badura-Stronka, Grzegorz Koczyk, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer, Aleksander Jamsheer   +12 more
doaj   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, Volume 19, Issue 10, Page 2921-2935, October 2025.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

DataSheet_1_Plerixafor and resatorvid inhibit hepatitis B virus in vitro by upregulating elongation factor Tu GTP-binding domain containing 2.docx

, 2023
BackgroundAn increase in the demand for a functional cure has accelerated research on new methods of therapy for chronic hepatitis B, which is mainly focused on restoring antiviral immunity for controlling viral infections.
Wenting Li (177115), Yuwen Li (135700), Rui Liu (54031), Pingping Hu (454023), Chuanlong Zhu (3966347), Ruirui Xu (483189), Tiantong Feng (14649029), Wen Zhang (7555), Jinyuan Cai (9990044), Hui Yuan (402180)   +9 more
core   +1 more source

The changes of peripheral blood hub genes in 24-week-old APP/PS1/Tau triple transgenic mouse model based on weighted gene co-expression network analysis [PDF]

Anais da Academia Brasileira de Ciências
Peripheral regulation emerges as a promising intervention in the early stages of Alzheimer’s disease (AD). The hub genes in the peripheral blood of MCI patients from GEO database (GSE63060, GSE63061) were screened using weighted gene co-expression ...
HEXU LIU, CHANGYIN YU, CHAO QIN
doaj   +1 more source

Comprehensive Insights into Tracheoesophageal Fistula Pathophysiology, Diagnosis, Treatment, and Future Directions

Advanced Science, Volume 12, Issue 37, October 6, 2025.
Tracheoesophageal fistula (TEF), a pathological trachea‐esophagus connection, arises congenitally or from malignancy/radiotherapy/trauma, causing aspiration and malnutrition. Diagnosis utilizes imaging and endoscopy. Treatment ranges from endoscopic stenting to surgical repair and conservative management.
Gang Li, Zhe Wang, Jia Liu, Shenbo Fu, Longmei Xue, Zijun Liao, Rong Yang, Shanping Huang, Rui Xu, Peng Chen, Yong Chen   +10 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

HER2:EFTUD2 digital PCR for determinant of HER2 status.

, 2013
Representative droplet digital plots from a tumour with high level amplification (left panel), low level amplification (middle panel) and a non-amplified tumour (right panel). The four quadrants represent top left: droplets with HER2 DNA only, top right:
Isaac Garcia-Murillas (502434), Maryou Lambros (502435), Nicholas C. Turner (265334)   +2 more
core   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, Volume 66, Issue 10, Page 4035-4052, October 2025.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source