Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells

scientific article published on 14 August 2019

Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1186/S13287-019-1369-8
P932PMC publication ID6693165
P698PubMed publication ID31412925

P50authorYong DaiQ57016528
Minglin OuQ88141577
P2093author name stringBo Li
Yong Xu
Wen Xue
Peng Zhu
Chunhong Li
Jiansheng Xie
Jiejing Chen
Weiguo Sui
Lianghong Yin
Donge Tang
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Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type IIQ28202828
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel geneQ28210464
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisQ28213090
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlationQ28276221
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Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional OsteoclastsQ30398603
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Proteome-wide identification of lysine 2-hydroxyisobutyrylation reveals conserved and novel histone modifications in Physcomitrella patensQ43985902
Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.Q44621304
Generation of systemic lupus erythematosus-specific induced pluripotent stem cells from urineQ45885275
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OsteopetrosisQ56335726
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep ApneaQ56360085
Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT reportQ61851821
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Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patientsQ86217985
Osteopetrotic induced pluripotent stem cells derived from patients with different disease-associated mutations by non-integrating reprogramming methodsQ91965003
P4510describes a project that usesCytoscapeQ3699942
P433issue1
P304page(s)251
P577publication date2019-08-14
P1433published inStem Cell Research & TherapyQ14390536
P1476titleGenotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells
P478volume10

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