Results 131 to 140 of about 63,140 (263)

Chromosomal Rearrangements and Protein Structure*

Cold Spring Harbor Symposia on Quantitative Biology, 1964
openaire   +3 more sources

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Correction: X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature. [PDF]

Mol Cytogenet
Peng Z, Yang R, Liu Q, Chen B, Long P.
europepmc   +1 more source

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +1 more source

X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature. [PDF]

Mol Cytogenet
Peng Z, Yang R, Liu Q, Chen B, Long P.
europepmc   +1 more source

Genetic Mutations in Recurrent/Metastatic Papillary Thyroid Carcinoma

The Laryngoscope, EarlyView.
We investigated the mutational landscape and prognostic implications of recurrent/metastatic papillary thyroid carcinoma using nationwide C‐CAT data from 348 patients. CDKN2A, KMT2D, and concurrent TERT/BRAF mutations were independently associated with poorer overall survival, highlighting the potential prognostic value of comprehensive genomic ...
Hiromi Nagano, Satoshi Kiyama, Takayuki Kyutoku, Masaru Yamashita   +3 more
wiley   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

Preimplantation genetic testing in couples with balanced chromosome rearrangement: a four-year period real world retrospective cohort study. [PDF]

BMC Pregnancy Childbirth
Zhou F, Ren J, Li Y, Keqie Y, Peng C, Chen H, Chen X, Liu S.   +7 more
europepmc   +1 more source

Comparative linkage mapping of diploid, tetraploid, and hexaploid Avena species suggests extensive chromosome rearrangement in ancestral diploids. [PDF]

Sci Rep, 2019
Latta RG, Bekele WA, Wight CP, Tinker NA.   +3 more
europepmc   +1 more source

Continuous Intrajejunal Levodopa–Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series

Movement Disorders Clinical Practice, EarlyView.
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés, Jardel Amory, Hopes Lucie, Clément Guillemette, Lambert Laetitia, Becker Aurélie, Dexheimer Mylène, Bonnet Céline, Frismand Solène, Renaud Mathilde, Puisieux Salomé   +10 more
wiley   +1 more source