Class information for:
Level 1: HOMOCYSTINURIA//CYSTATHIONINE BETA SYNTHASE//CYSTATHIONINE BETA SYNTHASE DEFICIENCY

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
21832 403 30.4 68%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
502 3       HOMOCYSTEINE//FOLATE//FOLIC ACID 22046
254 2             HOMOCYSTEINE//FOLATE//FOLIC ACID 19695
21832 1                   HOMOCYSTINURIA//CYSTATHIONINE BETA SYNTHASE//CYSTATHIONINE BETA SYNTHASE DEFICIENCY 403

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 HOMOCYSTINURIA authKW 2138776 21% 33% 86
2 CYSTATHIONINE BETA SYNTHASE authKW 1237458 17% 23% 70
3 CYSTATHIONINE BETA SYNTHASE DEFICIENCY authKW 681912 4% 60% 15
4 CBS authKW 177998 4% 14% 17
5 COLORADO INTELLECTUAL DEV DISABIL IDDRC address 157847 1% 42% 5
6 CYSTATHIONINE BETA SYNTHASE CBS authKW 154686 2% 29% 7
7 CYSTATHIONINE BETA SYNTHASE GENETIC VARIANTS authKW 151539 0% 100% 2
8 CYSTATHIONINE BETA SYNTHETASE DEFICIENCY authKW 151539 0% 100% 2
9 HOMOCYSTINURIA DIAGNOSIS authKW 151539 0% 100% 2
10 CYSTATHIONINE authKW 151515 3% 14% 14

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 Genetics & Heredity 1444 26% 0% 103
2 Biochemistry & Molecular Biology 735 37% 0% 150
3 Pediatrics 381 11% 0% 46
4 Endocrinology & Metabolism 352 12% 0% 50
5 Medicine, Research & Experimental 300 11% 0% 45
6 Biophysics 127 7% 0% 30
7 Ophthalmology 82 4% 0% 18
8 Medical Laboratory Technology 73 2% 0% 10
9 Medicine, General & Internal 26 5% 0% 22
10 Clinical Neurology 20 5% 0% 19

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 COLORADO INTELLECTUAL DEV DISABIL IDDRC 157847 1% 42% 5
2 INHERITED METAB DISORDERS 96724 6% 5% 24
3 ARCHETS HOSP 75769 0% 100% 1
4 BEADLE N133 75769 0% 100% 1
5 DEPART PHYSIOL 75769 0% 100% 1
6 ESTUD METAB CONGENITAS 75769 0% 100% 1
7 ESTUDIO MOL ENFERMEDADES HEREDITARIAS 75769 0% 100% 1
8 MARIA PIA HOSP 75769 0% 100% 1
9 METABOLISM GENET GRP 75769 0% 100% 1
10 NEONATAL SCREENING INHERITED DIS BIOCHEM 75769 0% 100% 1

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 JOURNAL OF INHERITED METABOLIC DISEASE 10446 6% 1% 25
2 HUMAN MUTATION 6875 5% 0% 19
3 MOLECULAR GENETICS AND METABOLISM 4088 3% 0% 13
4 METABOLIC AND PEDIATRIC OPHTHALMOLOGY 1282 0% 2% 1
5 BIOCHEMISTRY 1162 7% 0% 29
6 HUMAN MOLECULAR GENETICS 762 2% 0% 10
7 ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS 735 3% 0% 13
8 EUROPEAN JOURNAL OF PEDIATRICS 640 2% 0% 8
9 BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS 595 1% 0% 5
10 AMERICAN JOURNAL OF HUMAN GENETICS 591 2% 0% 8

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 HOMOCYSTINURIA 2138776 21% 33% 86 Search HOMOCYSTINURIA Search HOMOCYSTINURIA
2 CYSTATHIONINE BETA SYNTHASE 1237458 17% 23% 70 Search CYSTATHIONINE+BETA+SYNTHASE Search CYSTATHIONINE+BETA+SYNTHASE
3 CYSTATHIONINE BETA SYNTHASE DEFICIENCY 681912 4% 60% 15 Search CYSTATHIONINE+BETA+SYNTHASE+DEFICIENCY Search CYSTATHIONINE+BETA+SYNTHASE+DEFICIENCY
4 CBS 177998 4% 14% 17 Search CBS Search CBS
5 CYSTATHIONINE BETA SYNTHASE CBS 154686 2% 29% 7 Search CYSTATHIONINE+BETA+SYNTHASE+CBS Search CYSTATHIONINE+BETA+SYNTHASE+CBS
6 CYSTATHIONINE BETA SYNTHASE GENETIC VARIANTS 151539 0% 100% 2 Search CYSTATHIONINE+BETA+SYNTHASE+GENETIC+VARIANTS Search CYSTATHIONINE+BETA+SYNTHASE+GENETIC+VARIANTS
7 CYSTATHIONINE BETA SYNTHETASE DEFICIENCY 151539 0% 100% 2 Search CYSTATHIONINE+BETA+SYNTHETASE+DEFICIENCY Search CYSTATHIONINE+BETA+SYNTHETASE+DEFICIENCY
8 HOMOCYSTINURIA DIAGNOSIS 151539 0% 100% 2 Search HOMOCYSTINURIA+DIAGNOSIS Search HOMOCYSTINURIA+DIAGNOSIS
9 CYSTATHIONINE 151515 3% 14% 14 Search CYSTATHIONINE Search CYSTATHIONINE
10 DIRECT NUCLEOTIDE SEQUENCING 101024 0% 67% 2 Search DIRECT+NUCLEOTIDE+SEQUENCING Search DIRECT+NUCLEOTIDE+SEQUENCING

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref.
in cl.		 Shr. of ref. in
cl.		 Citations
1 MORRIS, AAM , KOZICH, V , SANTRA, S , ANDRIA, G , BEN-OMRAN, TIM , CHAKRAPANI, AB , CRUSHELL, E , HENDERSON, MJ , HOCHULI, M , HUEMER, M , ET AL (2017) GUIDELINES FOR THE DIAGNOSIS AND MANAGEMENT OF CYSTATHIONINE BETA-SYNTHASE DEFICIENCY.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 40. ISSUE 1. P. 49 -74 55 47% 1
2 MAJTAN, T , PEY, AL , ERENO-ORBEA, J , MARTINEZ-CRUZ, LA , KRAUS, JP , (2016) TARGETING CYSTATHIONINE BETA-SYNTHASE MISFOLDING IN HOMOCYSTINURIA BY SMALL LIGANDS: STATE OF THE ART AND FUTURE DIRECTIONS.CURRENT DRUG TARGETS. VOL. 17. ISSUE 13. P. 1455 -1470 55 58% 0
3 CASIQUE, L , KABIL, O , BANERJEE, R , MARTINEZ, JC , DE LUCCA, M , (2013) CHARACTERIZATION OF TWO PATHOGENIC MUTATIONS IN CYSTATHIONINE BETA-SYNTHASE: DIFFERENT INTRACELLULAR LOCATIONS FOR WILD-TYPE AND MUTANT PROTEINS.GENE. VOL. 531. ISSUE 1. P. 117 -124 38 84% 2
4 KARACA, M , HISMI, B , OZGUL, RK , KARACA, S , YILMAZ, DY , COSKUN, T , SIVRI, HS , TOKATLI, A , DURSUN, A , (2014) HIGH PREVALENCE OF CEREBRAL VENOUS SINUS THROMBOSIS (CVST) AS PRESENTATION OF CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN CHILDHOOD: MOLECULAR AND CLINICAL FINDINGS OF TURKISH PROBANDS.GENE. VOL. 534. ISSUE 2. P. 197 -203 38 83% 1
5 MENDES, MIS , COLACO, HG , SMITH, DEC , RAMOS, RJJF , POP, A , VAN DOOREN, SJM , DE ALMEIDA, IT , KLUIJTMANS, LAJ , JANSSEN, MCH , RIVERA, I , ET AL (2014) REDUCED RESPONSE OF CYSTATHIONINE BETA-SYNTHASE (CBS) TO S-ADENOSYLMETHIONINE (SAM): IDENTIFICATION AND FUNCTIONAL ANALYSIS OF CBS GENE MUTATIONS IN HOMOCYSTINURIA PATIENTS.JOURNAL OF INHERITED METABOLIC DISEASE. VOL. 37. ISSUE 2. P. 245-254 36 84% 2
6 COZAR, M , URREIZTI, R , VILARINHO, L , GROSSO, C , DE KREMER, RD , ASTEGGIANO, CG , DALMAU, J , GARCIA, AM , VILASECA, MA , GRINBERG, D , ET AL (2011) IDENTIFICATION AND FUNCTIONAL ANALYSES OF CBS ALLELES IN SPANISH AND ARGENTINIAN HOMOCYSTINURIC PATIENTS.HUMAN MUTATION. VOL. 32. ISSUE 7. P. 835 -842 34 89% 5
7 MAYFIELD, JA , DAVIES, MW , DIMSTER-DENK, D , PLESKAC, N , MCCARTHY, S , BOYDSTON, EA , FINK, L , LIN, XX , NARAIN, AS , MEIGHAN, M , ET AL (2012) SURROGATE GENETICS AND METABOLIC PROFILING FOR CHARACTERIZATION OF HUMAN DISEASE ALLELES.GENETICS. VOL. 190. ISSUE 4. P. 1308-+ 45 58% 16
8 KOZICH, V , SOKOLOVA, J , KLATOVSKA, V , KRIJT, J , JANOSIK, M , JELINEK, K , KRAUS, JP , (2010) CYSTATHIONINE BETA-SYNTHASE MUTATIONS: EFFECT OF MUTATION TOPOLOGY ON FOLDING AND ACTIVITY.HUMAN MUTATION. VOL. 31. ISSUE 7. P. 809 -819 34 81% 9
9 MAJTAN, T , KRAUS, JP , (2012) FOLDING AND ACTIVITY OF MUTANT CYSTATHIONINE BETA-SYNTHASE DEPENDS ON THE POSITION AND NATURE OF THE PURIFICATION TAG: CHARACTERIZATION OF THE R266K CBS MUTANT.PROTEIN EXPRESSION AND PURIFICATION. VOL. 82. ISSUE 2. P. 317-324 29 91% 4
10 KRAUS, JP , JANOSIK, M , KOZICH, V , MANDELL, R , SHIH, V , SPERANDEO, MP , SEBASTIO, G , DE FRANCHIS, R , ANDRIA, G , KLUIJTMANS, LAJ , ET AL (1999) CYSTATHIONINE BETA-SYNTHASE MUTATIONS IN HOMOCYSTINURIA.HUMAN MUTATION. VOL. 13. ISSUE 5. P. 362 -375 32 89% 157

Classes with closest relation at Level 1


Rank Class id link
1 63 HOMOCYSTEINE//HYPERHOMOCYSTEINEMIA//FOLATE
2 27004 HOMOCYSTEINE//ABT KLIN CHEM MED ZENT OR//AFFILIATED JIANGSU SHENZE HOSP
3 1449 HYDROGEN SULFIDE//CYSTATHIONINE GAMMA LYASE//GASOTRANSMITTER
4 19864 FIXL//COOA//GAS SENSOR PROTEINS
5 9072 METHYLMALONIC ACIDEMIA//PROPIONIC ACIDEMIA//METHYLMALONIC ACIDURIA
6 19331 METHIONINE BIOSYNTHESIS//COBALAMIN INDEPENDENT//METHIONINE REPRESSOR
7 26698 S ADENOSYLHOMOCYSTEINE//W CHINA PRECLIN FORENS MED SCI//BASIC CARDIOCEREBRAL VASC DIS
8 7647 METHIONINE ADENOSYLTRANSFERASE//S ADENOSYLMETHIONINE//GLYCINE N METHYLTRANSFERASE
9 33110 MYHRE SYNDROME//GELEOPHYSIC DYSPLASIA//MICROSPHEROPHAKIA
10 15558 TYROSINE PHENOL LYASE//TRYPTOPHAN SYNTHASE//TRYPTOPHANASE

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