Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

American Journal of Human Genetics

Volumn 94, Issue 3, 2014, Pages 385-394

  Hervé, Dominique ^a,b,c   Philippi, Anne ^a,b   Belbouab, Reda ^d   Zerah, Michel ^e   Chabrier, Stéphane ^f   Collardeau Frachon, Sophie ^g   Bergametti, Francoise ^a,b   Essongue, Aurore ^a,b   Berrou, Eliane ^h,i   Krivosic, Valérie ^c   Sainte Rose, Christian ^e   Houdart, Emmanuel ^c   Adam, Frédéric ^h,i   Billiemaz, Kareen ^f   Lebret, Marilyne ^h,i   Roman, Sabine ^j   Passemard, Sandrine ^c   Boulday, Gwenola ^a,b   Delaforge, Audrey ^c   Guey, Stéphanie ^a,b   Dray, Xavier ^k   Chabriat, Hugues ^a,b,c   Brouckaert, Peter ^l   Bryckaert, Maryjke ^h,i   Tournier Lasserve, Elisabeth ^a,b,c   more..

^a INSERM   (France)

^b INRA   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d Etablissement Public Hospitalier Hassen Badi El Harrach   (Algeria)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^g Paediatric Re education Unit L'Escale Femme Mère Enfant Hospital   (France)

^h Dept Environ Med Natl Inst Publ HIth   (Norway)

ⁱ UNIVERSITÉ PARIS SACLAY   (France)

^j UNIVERSITÉ LYON 1   (France)

^k SAINT LOUIS HOSPITAL   (France)

^l GHENT UNIVERSITY   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; GUANYLATE CYCLASE; NITRIC OXIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD VESSEL TONE; CARDIOESOPHAGOMYOTOMY; CLINICAL FEATURE; ESOPHAGUS ACHALASIA; ESOPHAGUS MANOMETRY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; IMMUNOBLOTTING; IN VITRO STUDY; LOWER ESOPHAGUS SPHINCTER; MALE; MEGAESOPHAGUS; MOYAMOYA DISEASE; PRIORITY JOURNAL; RAYNAUD PHENOMENON; SMOOTH MUSCLE RELAXATION; THROMBOCYTE ADHESION; THROMBOCYTE AGGREGATION; VASCULAR SMOOTH MUSCLE; VENOUS BLOOD;

ADOLESCENT; ADULT; BLOOD PLATELETS; CHILD; CHILD, PRESCHOOL; CYCLIC GMP; ESOPHAGEAL ACHALASIA; FEMALE; GENOTYPE; GUANYLATE CYCLASE; HOMOZYGOTE; HUMANS; MALE; MOYAMOYA DISEASE; MUSCLE, SMOOTH, VASCULAR; MUTATION; NITRIC OXIDE; PEDIGREE; PLATELET ADHESIVENESS; PLATELET AGGREGATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; YOUNG ADULT;

EID: 84895925070     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.018     Document Type: Article

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