Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Genome Research

Volumn 26, Issue 2, 2016, Pages 183-191

  Spielmann, Malte ^a,b,c   Kakar, Naseebullah ^d,e   Tayebi, Naeimeh ^a   Leettola, Catherine ^f   Nürnberg, Gudrun ^g   Sowada, Nadine ^d   Lupiáñez, Darío G ^a,b,h   Harabula, Izabela ^a   Flottmann, Ricarda ^b   Horn, Denise ^b   Chan, Wing Lee ^b   Wittler, Lars ^a   Yilmaz, Rüstem ^d   Altmüller, Janine ^g   Thiele, Holger ^g   Van Bokhoven, Hans ⁱ   Schwartz, Charles E ^j   Nürnberg, Peter ^g,k   Bowie, James U ^f   Ahmad, Jamil ^e   Kubisch, Christian ^l   Mundlos, Stefan ^a,b,c   Borck, Guntram ^d   more..

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c Berlin Brandenburg School for Regenerative Therapies (BSRT)   (Germany)

^d UNIVERSITY OF ULM   (Germany)

^e BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF COLOGNE   (Germany)

^h Berlin Brandenburg Center for Regenerative Therapies   (Germany)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j GREENWOOD GENETIC CENTER   (United States)

^k UNIVERSITY OF COLOGNE   (Germany)

^l UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELLULAR APOPTOSIS SUSCEPTIBILITY PROTEIN; DNA; GUIDE RNA; PROTEIN KINASE; PROTEIN KINASE ZAK; UNCLASSIFIED DRUG; BACTERIAL PROTEIN; CAS9 ENDONUCLEASE STREPTOCOCCUS PYOGENES; ENDONUCLEASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE; ZAK PROTEIN, HUMAN; ZAK PROTEIN, MOUSE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; CONTROLLED STUDY; CRISPR CAS SYSTEM; ECTRODACTYLY; EXOME; GENE DISRUPTION; GENE IDENTIFICATION; GENE SEQUENCE; HEARING IMPAIRMENT; HUMAN; KNOCKOUT GENE; LIMB DEFECT; MALE; MOUSE; NAIL DISEASE; NONHUMAN; PRIORITY JOURNAL; RNA EDITING; SINGLE NUCLEOTIDE POLYMORPHISM; 129 MOUSE; AMINO ACID SEQUENCE; ANIMAL; C57BL MOUSE; CELL LINE; CHEMISTRY; COCULTURE; DNA SEQUENCE; FEMALE; GENETICS; KNOCKOUT MOUSE; LIMB MALFORMATION; LOD SCORE; MISSENSE MUTATION; PEDIGREE; SITE DIRECTED MUTAGENESIS;

AMINO ACID SEQUENCE; ANIMALS; BACTERIAL PROTEINS; CELL LINE; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEATS; COCULTURE TECHNIQUES; ENDONUCLEASES; EXOME; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; LOD SCORE; MALE; MAP KINASE KINASE KINASES; MICE; MICE, 129 STRAIN; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN KINASES; SEQUENCE ANALYSIS, DNA;

EID: 84956905665     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.199430.115     Document Type: Article

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