Cargando…

Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners

Objectives. Kabuki syndrome (KS) is a rare genetic disorder characterized by developmental delay, retarded growth, and cardiac, gastrointestinal, neurocognitive, renal, craniofacial, dental, and skeletal defects. KS is caused by mutations in the genes encoding histone H3 lysine 4 methyltransferase (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Enkhmandakh, Badam, Robson, Paul, Joshi, Pujan, Vijaykumar, Anushree, Shin, Dong-Guk, Mina, Mina, Bayarsaihan, Dashzeveg
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9391158/ https://www.ncbi.nlm.nih.gov/pubmed/35992033 http://dx.doi.org/10.1155/2022/4969441

Ejemplares similares

Diversity and Complexity in Chromatin Recognition by TFII-I Transcription Factors in Pluripotent Embryonic Stem Cells and Embryonic Tissues
por: Makeyev, Aleksandr V., et al.
Publicado: (2012)

A Novel Epi-drug Therapy Based on the Suppression of BET Family Epigenetic Readers
por: Shin, Dong-Guk, et al.
Publicado: (2017)

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
por: Luperchio, Teresa Romeo, et al.
Publicado: (2019)

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome
por: Nunez Stosic, Mariana, et al.
Publicado: (2023)

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
por: Yi, Sheng, et al.
Publicado: (2023)

Deciphering the Epigenetic Code in Embryonic and Dental Pulp Stem Cells
por: Bayarsaihan, Dashzeveg
Publicado: (2016)

A novel KMT2D mutation resulting in Kabuki syndrome: A case report
por: Lu, Jun, et al.
Publicado: (2016)

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
por: Aristizábal, Erica, et al.
Publicado: (2021)

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration
por: Schwenty-Lara, Janina, et al.
Publicado: (2020)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
por: Mısırlıgil, Mina, et al.
Publicado: (2021)

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
por: Lepri, Francesca Romana, et al.
Publicado: (2017)

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
por: Piro, Ettore, et al.
Publicado: (2020)

A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
por: Moon, Jung-Eun, et al.
Publicado: (2018)

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
por: Porntaveetus, Thantrira, et al.
Publicado: (2018)

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review
por: Xin, Chengqi, et al.
Publicado: (2018)

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
por: Cuvertino, Sara, et al.
Publicado: (2020)

Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing
por: Li, Shuolin, et al.
Publicado: (2022)

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report
por: Sakata, Sonoko, et al.
Publicado: (2017)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation
por: Timothy, Leander D., et al.
Publicado: (2019)

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
por: Cuvertino, Sara, et al.
Publicado: (2020)

Kabuki Syndrome with Cleft Palate
por: Paik, Joo Myong, et al.
Publicado: (2016)

Kabuki syndrome and its anaesthetic management
por: Roy, Debashis, et al.
Publicado: (2011)

Kabuki syndrome: clinical and molecular characteristics
por: Cheon, Chong-Kun, et al.
Publicado: (2015)

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
por: Gürbüz, Fatih, et al.
Publicado: (2016)

Neurobehavioral features in individuals with Kabuki syndrome
por: Caciolo, Cristina, et al.
Publicado: (2018)

Pan-sarcoma genomic analysis of KMT2A rearrangements reveals distinct subtypes defined by YAP1–KMT2A–YAP1 and VIM–KMT2A fusions
por: Massoth, Lucas R., et al.
Publicado: (2020)

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
por: Lim, Chaemoon, et al.
Publicado: (2019)

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome
por: Kim, Nam Gil, et al.
Publicado: (2011)

Anesthesia Management in a Patient with Kabuki Syndrome
por: Atalay, Yunus Oktay, et al.
Publicado: (2014)

Anatomical and functional abnormalities on MRI in kabuki syndrome
por: Boisgontier, Jennifer, et al.
Publicado: (2018)

Kabuki Syndrome: A Rare Clinical Presentation
por: Wankar, Abhishek D.
Publicado: (2020)

Kabuki Syndrome—Clinical Review with Molecular Aspects
por: Boniel, Snir, et al.
Publicado: (2021)

Transcription factor TFII-I fine tunes innate properties of B lymphocytes
por: Singh, Amit, et al.
Publicado: (2023)

Recurrent Dislocation of the Patella in Kabuki Make-Up Syndrome
por: Rouffiange, Lucie, et al.
Publicado: (2012)

Kabuki Make-Up Syndrome with Bilateral Dislocation of the Hip
por: Elmouhtadi, Aghoutane, et al.
Publicado: (2013)

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment
por: Siminas, Sotirios, et al.
Publicado: (2015)

Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome
por: van Dongen, L. C. M., et al.
Publicado: (2019)

From Genotype to Phenotype—A Review of Kabuki Syndrome †
por: Barry, Kelly K., et al.
Publicado: (2022)

Autoimmune haematological disorders in two Italian children with Kabuki Syndrome
por: Giordano, Paola, et al.
Publicado: (2014)

Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl
por: Topcu, Yasemin, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ie2r0q48qotovqjapnjo3hcj66