Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population

Chenlong Yang; Jizong Zhao; Bingquan Wu; Haohao Zhong; Yan Li; Yulun Xu

doi:10.1007/s12031-016-0836-2

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population

Journal of Molecular Neuroscience ◽

10.1007/s12031-016-0836-2 ◽

2016 ◽

Vol 61 (1) ◽

pp. 8-15 ◽

Cited By ~ 9

Author(s):

Chenlong Yang ◽

Jizong Zhao ◽

Bingquan Wu ◽

Haohao Zhong ◽

Yan Li ◽

...

Keyword(s):

Splice Site ◽

Chinese Population ◽

Cavernous Malformation ◽

Splice Site Mutation ◽

Deletion Mutation ◽

Cerebral Cavernous Malformation ◽

Site Mutation ◽

Familial Cerebral Cavernous Malformation

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A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation

Clinical Neurology and Neurosurgery ◽

10.1016/j.clineuro.2017.11.005 ◽

2018 ◽

Vol 164 ◽

pp. 44-46 ◽

Cited By ~ 1

Author(s):

Chenlong Yang ◽

Bingquan Wu ◽

Haohao Zhong ◽

Yan Li ◽

Xingzheng Zheng ◽

...

Keyword(s):

Cavernous Malformation ◽

Deletion Mutation ◽

Cerebral Cavernous Malformation ◽

Chinese Family ◽

Heterozygous Deletion ◽

Familial Cerebral Cavernous Malformation

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Emery-Dreifuss Muscular Dystrophy Type 1 in a 15-Year-Old Patient Due to a Novel Putative Splice-Site Mutation

Neuropediatrics ◽

10.1055/s-0037-1603007 ◽

2017 ◽

Vol 48 (S 01) ◽

pp. S1-S45

Author(s):

O. Schwartz ◽

J. Althaus ◽

B. Fiedler ◽

K. Heß ◽

W. Paulus ◽

...

Keyword(s):

Muscular Dystrophy ◽

Splice Site ◽

Splice Site Mutation ◽

Site Mutation

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Author response for "Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation"

10.1002/jbmr.3995/v2/response1 ◽

2020 ◽

Author(s):

Antonia Howaldt ◽

Anna Floriane Hennig ◽

Tim Rolvien ◽

Uta Rössler ◽

Nina Stelzer ◽

...

Keyword(s):

Bone Resorption ◽

Splice Site ◽

Splice Site Mutation ◽

Author Response ◽

Site Mutation ◽

Metaphyseal Dysplasia ◽

Osteonecrosis Of The Jaws

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A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

Minerva Pediatrica ◽

10.23736/s0026-4946.17.04817-4 ◽

2018 ◽

Vol 70 (5) ◽

Author(s):

Melahat M. Oguz ◽

Meltem Akcaboy ◽

Asuman Gurkan ◽

Esma Altinel Acoglu ◽

Pelin Zorlu ◽

...

Keyword(s):

Splice Site ◽

Fever Of Unknown Origin ◽

Ectodermal Dysplasia ◽

Splice Site Mutation ◽

Unknown Origin ◽

Hypohidrotic Ectodermal Dysplasia ◽

Site Mutation

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A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)

Journal of the korean child neurology society ◽

10.26815/jkcns.2014.22.3.182 ◽

2014 ◽

Vol 22 (3) ◽

pp. 182-185

Author(s):

신종수 ◽

김성환 ◽

이문정

Keyword(s):

Case Report ◽

Splice Site ◽

Glucose Transporter ◽

Splice Site Mutation ◽

Deficiency Syndrome ◽

Site Mutation ◽

Glucose Transporter 1

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A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient

JHN Journal ◽

10.29046/jhnj.013.2.003 ◽

2018 ◽

Vol 13 (2) ◽

Author(s):

Manu Arul ◽

Omaditya Khanna ◽

Michael Gooch

Keyword(s):

Case Report ◽

Adult Patient ◽

Cavernous Malformation ◽

Cerebral Cavernous Malformation ◽

Familial Cerebral Cavernous Malformation

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A 3' splice site mutation in a nuclear gene encoding a mitochondrial ribosomal protein in Neurospora crassa.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)69146-x ◽

1988 ◽

Vol 263 (6) ◽

pp. 2848-2852 ◽

Cited By ~ 2

Author(s):

M T Kuiper ◽

M Holtrop ◽

H Vennema ◽

A M Lambowitz ◽

H de Vries

Keyword(s):

Ribosomal Protein ◽

Neurospora Crassa ◽

Splice Site ◽

Nuclear Gene ◽

Splice Site Mutation ◽

Site Mutation ◽

Gene Encoding ◽

Mitochondrial Ribosomal Protein

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Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies

JAMA Ophthalmology ◽

10.1001/jamaophthalmol.2014.6115 ◽

2015 ◽

Vol 133 (5) ◽

pp. 511 ◽

Cited By ~ 6

Author(s):

Suma P. Shankar ◽

David G. Birch ◽

Richard S. Ruiz ◽

Dianna K. Hughbanks-Wheaton ◽

Lori S. Sullivan ◽

...

Keyword(s):

Splice Site ◽

Founder Effect ◽

Autosomal Dominant ◽

Splice Site Mutation ◽

Site Mutation ◽

Retinal Dystrophies

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Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

Human Mutation ◽

10.1002/(sici)1098-1004(1996)7:3<219::aid-humu6>3.0.co;2-5 ◽

1996 ◽

Vol 7 (3) ◽

pp. 219-227 ◽

Cited By ~ 19

Author(s):

Alan C. Nicholls ◽

Jane Oliver ◽

Seamus McCarron ◽

Gerald B. Winter ◽

F. Michael Pope

Keyword(s):

Osteogenesis Imperfecta ◽

Splice Site ◽

Type I Collagen ◽

Splice Site Mutation ◽

Type I ◽

Dentinogenesis Imperfecta ◽

Site Mutation

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An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2014-0048 ◽

2014 ◽

Vol 27 (9-10) ◽

Cited By ~ 1

Author(s):

Hakan Cangul ◽

Halil Saglam ◽

Yaman Saglam ◽

Erdal Eren ◽

Durmus Dogan ◽

...

Keyword(s):

Splice Site ◽

Splice Site Mutation ◽

Site Mutation ◽

Thyroid Dysgenesis ◽

Tshr Gene

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