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double helix after damage is initially recognized. NER is a multi-step pathway that removes a variety of different DNA damages that alter normal base pairing, including both UV-induced damages and bulky chemical adducts. Features of premature aging often occur in individuals with mutational defects
123:
Features of TTD can include photosensitivity, ichthyosis, brittle hair and nails, intellectual impairment, decreased fertility and short stature. A more subtle feature associated with this syndrome is a "tiger tail" banding pattern in hair shafts, seen in microscopy under polarized light. The
142:
or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. (Chong Hai Tay was the
Singaporean doctor who was the first doctor in South East Asia to have a disease named after him.) Tay syndrome should not be confused with the
463:
Liang, Christine; Kraemer, Kenneth H.; Morris, Andrea; Schiffmann, Raphael; Price, Vera H.; Menefee, Emory; DiGiovanna, John J. (February 2005). "Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy".
185:(NER) pathway, which is a vital DNA repair system that removes many kinds of DNA lesions. This defect is not present in the nonphotosensitive TTD's. These type of defects can result in other rare autosomal recessive diseases like
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inherited disease. It is nonphotosensitive. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. There is a photosensitive syndrome, PBIDS.
1117:
794:
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (Dec 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk".
124:
acronyms PIBIDS, IBIDS, BIDS and PBIDS give the initials of the words involved. BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an
1279:
1772:
1727:
1272:
580:
Hashimo S, and Egly JM. Trichothiodystrophy view from the molecular basis of DNA repair transcription factor TF11H.www.oxfordjournals.org/content/18/R2/R224
1714:
449:
726:
Stefanini M, B. E.; Botta, E.; Lanzafame, M.; Orioli, D. (January 2010). "Trichothiodystrophy: from basic mechanisms to clinical implications".
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138:(TTDN1). IBIDS syndrome, following the acronym from ichthyosis, brittle hair and nails, intellectual impairment and short stature, is the
1420:
639:
Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder".
1242:
864:
Peserico, A.; Battistella, P. A.; Bertoli, P. (1 January 1992). "MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S".
1752:
996:
778:
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425:
30:
Amish brittle hair syndrome, BIDS syndrome, brittle hair–intellectual impairment–decreased fertility–short stature syndrome
1031:
836:
676:
498:
99:– "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the
1264:
1537:
592:"Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy"
568:
1327:
1674:
1507:
1381:
944:"Genome Instability in Development and Aging: Insights from Nucleotide Excision Repair in Humans, Mice, and Worms"
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107:. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have
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Lambert WC, Gagna CE, Lambert MW (2010). "Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay
Syndrome".
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inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into
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Baden, H. P.; Jackson, C. E.; Weiss, L.; Jimbow, K.; Lee, L.; Kubilus, J.; Gold, R. J. (Sep 1976).
115:; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.
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disease. In some cases, it can be diagnosed prenatally. IBIDS syndrome is nonphotosensitive.
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8:
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in genes specifying protein components of the NER pathway, including those with TTD (see
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82:
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943:
889:
819:
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Currently, mutations in four genes are recognized as causing the TTD phenotype, namely
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1699:
1606:
1377:
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924:
907:
Theil AF, Hoeijmakers JH, Vermeulen W (2014). "TTDA: big impact of a small protein".
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412:. Advances in Experimental Medicine and Biology. Vol. 685. pp. 106–10.
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The photosensitive form is referred to as PIBIDS, and is associated with
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Hashimoto S, and Egly JM, www.oxfordjournals.org/content/18/R2/R224
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148:
125:
100:
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111:, which divides the classification into syndromes with or without
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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1048:
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255:(TFIIH). This complex factor is an important decision maker in
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Andrews' Diseases of the Skin: Clinical
Dermatology (10th ed.)
516:"The physicochemical properties of hair in the BIDS syndrome"
213:
170:
166:
91:
44:
This condition is inherited in an autosomal recessive manner.
462:
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906:
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Nakabayashi K, Amann D, Ren Y, et al. (March 2005).
260:
207:
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James, William; Berger, Timothy; Elston, Dirk (2005).
181:
All photosensitive TTD syndromes have defects in the
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589:
235:are photosensitive, whereas those with a defect in
941:
251:, encode protein components of the multi-subunit
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853:http://www.oxfordjournals.org/content/18/R2/R224
1773:DNA replication and repair-deficiency disorders
1728:DNA replication and repair-deficiency disorder
466:Journal of the American Academy of Dermatology
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1140:Congenital malformations and deformations of
1125:
672:
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561:Fitzpatrick's Dermatology in General Medicine
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448:: CS1 maint: multiple names: authors list (
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1715:Marfanoid–progeroid–lipodystrophy syndrome
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63:
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1421:Hereditary nonpolyposis colorectal cancer
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1243:Giant axonal neuropathy with curly hair
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1639:Hutchinson–Gilford progeria syndrome
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837:Online Mendelian Inheritance in Man
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677:Online Mendelian Inheritance in Man
499:Online Mendelian Inheritance in Man
373:
13:
520:American Journal of Human Genetics
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14:
1789:
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134:BIDS is associated with the gene
1508:Severe combined immunodeficiency
942:Edifizi D, Schumacher B (2015).
318:
279:
1431:Mismatch repair cancer syndrome
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253:transcription/repair factor IIH
223:. Individuals with defects in
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1304:DNA repair-deficiency disorder
632:
574:
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401:
1:
1753:Autosomal recessive disorders
1218:Sabinas brittle hair syndrome
366:
196:
1675:DeSanctis–Cacchione syndrome
1382:DeSanctis–Cacchione syndrome
1328:Aicardi–Goutières syndrome 4
997:NIH document on Tay syndrome
740:10.1016/j.dnarep.2009.10.005
418:10.1007/978-1-4419-6448-9_10
361:List of cutaneous conditions
310:
271:
7:
921:10.1016/j.yexcr.2014.07.008
349:
239:are not. The three genes,
10:
1794:
1680:Nijmegen breakage syndrome
1454:Nijmegen breakage syndrome
1370:Nucleotide excision repair
1254:Zimmermann–Laband syndrome
563:. (6th ed.). McGraw-Hill.
559:Freedberg, et al. (2003).
478:10.1016/j.jaad.2004.09.013
266:DNA damage theory of aging
183:nucleotide excision repair
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851:Hashimoto S, and Egly JM
694:Dermatology: 2-Volume Set
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1233:Uncombable hair syndrome
653:10.1001/archderm.104.1.4
160:
1653:Other/related disorders
1319:Separation/initiation:
388:Genetics Home Reference
1690:Dyskeratosis congenita
1670:Baller–Gerold syndrome
1644:Restrictive dermopathy
1599:NER protein-associated
1349:Dyskeratosis congenita
1168:Pachyonychia congenita
410:Diseases of DNA Repair
327:This section is empty.
288:This section is empty.
1695:Ataxia telangiectasia
1612:Xeroderma pigmentosum
1449:Ataxia–telangiectasia
1392:Xeroderma pigmentosum
384:"Trichothiodystrophy"
187:xeroderma pigmentosum
1758:Congenital disorders
1660:Li–Fraumeni syndrome
1503:Li–Fraumeni syndrome
769:. Saunders. p.
696:. St. Louis: Mosby.
177:Photosensitive forms
1778:Progeroid syndromes
1665:Rapadilino syndrome
1617:Trichothiodystrophy
1554:Progeroid syndromes
1491:RAPADILINO syndrome
1426:Muir–Torre syndrome
1413:DNA mismatch repair
961:10.3390/biom5031855
83:autosomal recessive
75:Trichothiodystrophy
22:Trichothiodystrophy
1238:Björnstad syndrome
1084:External resources
878:10.1007/BF00588190
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1705:PIBI(D)S syndrome
1700:De Barsy syndrome
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1378:Cockayne syndrome
1296:Metabolic disease
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802:(12): 1133–1137.
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703:978-1-4160-2999-1
596:Am. J. Hum. Genet
427:978-1-4419-6447-2
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191:Cockayne syndrome
145:Tay–Sachs disease
95:– "sulphur", and
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119:Presentation
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1441:MRN complex
1206:Monilethrix
1177:Koilonychia
1163:Leukonychia
915:(1): 61–8.
734:(1): 2–10.
647:(1): 4–13.
393:19 February
356:Skin lesion
55:Dermatology
27:Other names
1742:Categories
1726:See also:
1562:DNA repair
1361:DNA repair
1338:telomerase
1228:Pili torti
1172:Onychauxis
728:DNA Repair
367:References
197:DNA repair
155:congenital
89:– "hair",
1768:Syndromes
1631:Lamin A/C
1158:Anonychia
1074:723551003
1069:SNOMED CT
444:cite book
311:Treatment
272:Diagnosis
214:ERCC2/XPD
208:ERCC3/XPB
167:ERCC2/XPD
152:recessive
149:autosomal
129:recessive
126:autosomal
97:dystrophy
50:Specialty
1322:RNASEH2A
1093:Orphanet
980:26287260
929:25016283
894:31063628
839:(OMIM):
824:23534246
816:17880036
748:19931493
679:(OMIM):
626:15645389
501:(OMIM):
486:15692466
436:20687499
350:See also
101:ectoderm
81:) is an
1063:D054463
1027:: L67.8
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886:1528442
661:5120162
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1463:Other
1098:33364
890:S2CID
820:S2CID
237:TTDN1
203:TTDN1
171:ERCC3
161:Cause
1343:DKC1
1302:and
1058:MeSH
1032:OMIM
976:PMID
925:PMID
882:PMID
812:PMID
775:ISBN
744:PMID
698:ISBN
657:PMID
622:PMID
565:ISBN
538:PMID
482:PMID
450:link
432:PMID
422:ISBN
395:2018
249:TTDA
247:and
233:TTDA
231:and
220:TTDA
217:and
189:and
169:and
103:and
92:thio
1409:MSI
1020:ICD
966:PMC
956:doi
917:doi
913:329
874:doi
804:doi
771:575
736:doi
649:doi
645:104
612:PMC
604:doi
528:PMC
474:doi
414:doi
333:.
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268:).
261:DNA
257:NER
245:XPD
241:XPB
229:XPD
225:XPB
79:TTD
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