Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

scientific article published on 17 April 2014

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/JHG.2014.25
P698PubMed publication ID24739679
P5875ResearchGate publication ID261749260

P50authorChong Kun CheonQ47703410
Hyun-Seok JinQ56998629
Yeoun-Joo LeeQ85315747
P2093author name stringSeon-Yong Jeong
Jung Min Ko
Eun Jung Bae
Young Bae Sohn
Il Soo Ha
Ji Sun Song
Bo Kyoung Yang
Jea Woo Moon
P2860cites workArray-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationQ21261428
MLL2: A new mammalian member of the trx/MLL family of genesQ22010267
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeQ24607321
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeQ24622470
The SET-domain protein superfamily: protein lysine methyltransferasesQ24811144
A histone H3 lysine 27 demethylase regulates animal posterior developmentQ28248320
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeQ28256091
KDM6A point mutations cause Kabuki syndromeQ28277325
A mutation screen in patients with Kabuki syndromeQ34186982
High-throughput sequencing of microdissected chromosomal regionsQ34328777
The UTX gene escapes X inactivation in mice and humansQ34460028
Kabuki syndrome: a reviewQ34554794
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patientsQ34685121
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsQ35121146
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumQ35837668
Regulating a master regulator: establishing tissue-specific gene expression in skeletal muscleQ37780648
Kabuki syndrome revisitedQ37995857
A novel MLL2 gene mutation in a Korean patient with Kabuki syndromeQ39353063
Exome sequencing: the expert viewQ42576049
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.Q50237955
Patient with Kabuki syndrome and acute leukemia.Q51946973
A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma.Q52009407
High incidence of malformation syndromes in a series of 1,073 children with cancer.Q55040281
Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndromeQ81427589
Kabuki syndrome and cancer in two patientsQ84303082
P433issue6
P304page(s)321-325
P577publication date2014-04-17
P1433published inJournal of Human GeneticsQ6295302
P1476titleIdentification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome
P478volume59

Reverse relations

cites work (P2860)
Q93252497A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
Q52517700Congenital heart defects in molecularly proven Kabuki syndrome patients.
Q52669948De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Q33426259Epigenetic control of the immune system: a lesson from Kabuki syndrome
Q34707985FLAGS, frequently mutated genes in public exomes
Q35610421Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations
Q26778099Kabuki syndrome: clinical and molecular characteristics
Q50504852Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Q33601252Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
Q49965794The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Q36683908The necessity for in vivo functional analysis in human medical genetics
Q35976439The strong association of left-side heart anomalies with Kabuki syndrome
Q47598047UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.
Q99726393UTX/KDM6A suppresses AP-1 and a gliogenesis program during neural differentiation of human pluripotent stem cells
Q38437571Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes
Q104557165Using Xenopus to analyze neurocristopathies like Kabuki syndrome
Q36113695Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Q57691642Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family

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