Results 201 to 210 of about 148,484 (307)

ISOLATED MICROTUBULES [PDF]

The Journal of Cell Biology, 1965
openaire   +2 more sources

SuperResNET: Model‐Free Single‐Molecule Network Analysis Software Achieves Molecular Resolution of Nup96

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
SuperResNET is a powerful integrated software that reconstructs network architecture and molecular distribution of subcellular structures from single molecule localization microscopy datasets. SuperResNET segments the nuclear pore complex and corners, extracts size, shape, and network features of all segmented nuclear pores and uses modularity analysis
Yahongyang Lydia Li, Ismail M. Khater, Christian Hallgrimson, Ben Cardoen, Timothy H. Wong, Ghassan Hamarneh, Ivan R. Nabi   +6 more
wiley   +1 more source

Slender lobes is a spindle matrix protein regulated by spindle envelope kinase Greatwall in oocytes. [PDF]

J Cell Biol
Kaade R, Peat E, Repton C, Niziol J, Mason CS, Yap LE, Pavlova G, Ohkura H.   +7 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

Practically Error-Free Junctions Enable Solving Large Instances of Exact Cover Problems Using Network-Based Biocomputation. [PDF]

Small
V R EC, Meinecke CR, Nitzsche B, Lyttleton R, Reuther C, Reuter D, Linke H, Korten T, Diez S.   +8 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

The Secret (Mitotic) Life of Clathrin. [PDF]

Traffic
Royle SJ.
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

The centriculum, a membrane reticulum that surrounds Caenorhabditis elegans centrosomes, might serve as a microtubule filter. [PDF]

J Cell Sci
Maheshwari R, Rahman MM, Ruddick A, Drey S, Mirabello RS, Cohen-Fix O.   +5 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source