Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Journal of Clinical Investigation

Volumn 126, Issue 7, 2016, Pages 2575-2587

  Souma, Tomokazu ^a   Tompson, Stuart W ^b   Thomson, Benjamin R ^a   Siggs, Owen M ^c   Kizhatil, Krishnakumar ^d   Yamaguchi, Shinji ^a   Feng, Liang ^a   Limviphuvadh, Vachiranee ^e   Whisenhunt, Kristina N ^b   Maurer Stroh, Sebastian ^e,f   Yanovitch, Tammy L ^g   Kalaydjieva, Luba ^h   Azmanov, Dimitar N ^h,i   Finzi, Simone ^j   Mauri, Lucia ^k   Javadiyan, Shahrbanou ^c   Souzeau, Emmanuelle ^c   Zhou, Tiger ^c   Hewitt, Alex W ^l,m,n   Kloss, Bethany ^b   Burdon, Kathryn P ^c,n   Mackey, David A ^m,n   Allen, Keri F ^o   Ruddle, Jonathan B ^l   Lim, Sing Hui ^p   Rozen, Steve ^p   Tran Viet, Khanh Nhat ^q   Liu, Xiaorong ^a   John, Simon ^d,r   Wiggs, Janey L ^o   Pasutto, Francesca ^s   Craig, Jamie E ^c   Jin, Jing ^a   Quaggin, Susan E ^a   Young, Terri L ^b,p   more..

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c FLINDERS UNIVERSITY   (Australia)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e BIOINFORMATICS INSTITUTE   (Singapore)

^f NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

^g UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^h UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

ⁱ PATHWEST LABORATORY MEDICINE   (Australia)

^j UNIVERSITY OF SÃO PAULO   (Brazil)

^k OSPEDALE NIGUARDA CA GRANDA   (Italy)

^l UNIVERSITY OF MELBOURNE   (Australia)

^m UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

ⁿ UNIVERSITY OF TASMANIA   (Australia)

^o HARVARD MEDICAL SCHOOL   (United States)

^p NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^q UNIVERSITY OF CALIFORNIA   (United States)

^r TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOPOIETIN RECEPTOR; CYTOCHROME P450 1B1; GENOMIC DNA; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; MYOCILIN; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR FOXC1; TUNICA INTERNA ENDOTHELIAL CELL KINASE; UNCLASSIFIED DRUG; ANGIOPOIETIN; LIGAND; TEK PROTEIN, MOUSE;

ADULT; ANIMAL TISSUE; ANTERIOR EYE CHAMBER; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELLULAR DISTRIBUTION; COMPARATIVE STUDY; CONGENITAL GLAUCOMA; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DOSAGE; HAPLOINSUFFICIENCY; HEMIZYGOSITY; HUMAN; HUMAN TISSUE; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SCHLEMM CANAL; SIGNAL TRANSDUCTION; TRABECULAR MESHWORK; ANIMAL; EXOME; FAMILY HEALTH; GENE EXPRESSION REGULATION; GENETICS; GLAUCOMA; KNOCKOUT MOUSE; METABOLISM; MISSENSE MUTATION; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; TRANSGENIC MOUSE;

ANGIOPOIETINS; ANIMALS; EXOME; FAMILY HEALTH; GENE DOSAGE; GENE EXPRESSION REGULATION; GLAUCOMA; HUMANS; INTRAOCULAR PRESSURE; LIGANDS; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; RECEPTOR, TIE-2; SIGNAL TRANSDUCTION; TRABECULAR MESHWORK;

EID: 84978431523     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI85830     Document Type: Article

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