Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

Human Molecular Genetics

Volumn 24, Issue 18, 2015, Pages 5079-5092

  Hannan, Fadil M ^a,aa   Howles, Sarah A ^a   Rogers, Angela ^a   Cranston, Treena ^b   Gorvin, Caroline M ^a   Babinsky, Valerie N ^a   Reed, Anita A ^a   Thakker, Clare E ^a   Bockenhauer, Detlef ^c   Brown, Rosalind S ^d   Connell, John M ^e   Cook, Jacqueline ^f   Darzy, Ken ^g   Ehtisham, Sarah ^h   Graham, Una ⁱ   Hulse, Tony ^j   Hunter, Steven J ⁱ   Izatt, Louise ^k   Kumar, Dhavendra ^l   McKenna, Malachi J ^m   McKnight, John A ⁿ   Morrison, Patrick J ^o,p   Mughal, M Zulf ^h   O'Halloran, Domhnall ^q   Pearce, Simon H ^r   Porteous, Mary E ^s   Rahman, Mushtaqur ^t   Richardson, Tristan ^u   Robinson, Robert ^v   Scheers, Isabelle ^w   Siddique, Haroon ^x   van't Hoff, William G ^c   Wang, Timothy ^y   Whyte, Michael P ^z   Nesbit, M Andrew ^a,ab   Thakker, Rajesh V ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF DUNDEE   (United Kingdom)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^g QUEEN ELIZABETH II HOSPITAL   (United Kingdom)

^h ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

ⁱ ROYAL VICTORIA HOSPITAL   (United Kingdom)

^j ST THOMAS HOSPITAL   (United Kingdom)

^k GUY S HOSPITAL   (United Kingdom)

^l UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^m ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

ⁿ UNIVERSITY OF EDINBURGH   (United Kingdom)

^o QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^p ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^q Department of Medicine National University of Ireland Cork   (Ireland)

^r NEWCASTLE UNIVERSITY   (United Kingdom)

^s WESTERN GENERAL HOSPITAL   (United Kingdom)

^t NORTHWICK PARK HOSPITAL   (United Kingdom)

^u ROYAL BOURNEMOUTH HOSPITAL   (United Kingdom)

^v CHESTERFIELD ROYAL HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^w CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^x RUSSELLS HALL HOSPITAL   (United Kingdom)

^y FRIMLEY PARK HOSPITAL   (United Kingdom)

^z SHRINERS HOSPITAL FOR CHILDREN   (United States)

^aa UNIVERSITY OF LIVERPOOL   (United Kingdom)

^ab UNIVERSITY OF ULSTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ADAPTOR PROTEIN 2 SIGMA SUBUNIT; ALKALINE PHOSPHATASE; CALCIUM; CALCIUM SENSING RECEPTOR; MAGNESIUM; PHOSPHATE; UNCLASSIFIED DRUG; AP2S1 PROTEIN, HUMAN; BIOLOGICAL MARKER; CODON; SIGMA ADAPTIN;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; AREA UNDER THE CURVE; ARTICLE; CALCIUM BLOOD LEVEL; CALCIUM SIGNALING; CALCIUM URINE LEVEL; CHILD; CLINICAL ARTICLE; CODON; COGNITIVE DEFECT; CREATININE CLEARANCE; FAMILIAL DISEASE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; INFANT; INTRON; LOSS OF FUNCTION MUTATION; MAGNESIUM BLOOD LEVEL; MALE; MIDDLE AGED; MISSENSE MUTATION; PHENOTYPE; PHOSPHATE BLOOD LEVEL; PREDICTIVE VALUE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; YOUNG ADULT; CELL LINE; CHEMISTRY; DIFFERENTIAL DIAGNOSIS; DOMINANT GENE; GENE EXPRESSION; GENETIC ASSOCIATION STUDY; GENETICS; MOLECULAR MODEL; MUTATION; PEDIGREE; PROTEIN CONFORMATION; STRUCTURE ACTIVITY RELATION;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BIOMARKERS; CELL LINE; CHILD; CHILD, PRESCHOOL; CODON; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE EXPRESSION; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HUMANS; HYPERCALCEMIA; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

EID: 84940664641     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv226     Document Type: Article

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