PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 18078840-12 2008 From the clinical point of view, the folate sensitive rare fragile site FRAXA is the most important fragile site as it is associated with the fragile X syndrome, the most common form of familial mental retardation, affecting about 1/4000 males and 1/6000 females. Folic Acid 37-43 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 72-77 22065534-2 2011 The folate-sensitive fragile site FRAXE is located in Xq28 approximately 600 kb distal to the fragile X syndrome fragile site (FRAXA) and harbors an unstable GCC (CCG) triplet repeat adjacent to a CpG island in the 5" untranslated region of the AFF2 (FMR2) gene. Folic Acid 4-10 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 127-132 21739597-1 2011 The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA. Folic Acid 137-143 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 167-172 32601218-9 2020 We propose that break-induced DNA replication is required for the replication of FRAXA under folate stress and define a cellular function for human SLX1. Folic Acid 93-99 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 81-86 30509972-4 2018 Many RFSs, as exemplified by expansion of a CGG trinucleotide repeat sequence in the fragile X syndrome-associated FRAXA locus, exhibit fragility in response to folate deficiency or other forms of "folate stress." Folic Acid 161-167 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 115-120 24419320-2 2014 Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress or thymidylate synthase inhibitors like fluorodeoxyuridine (FdU). Folic Acid 149-155 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 49-54 15203205-2 2004 Expansion of CGG/CCG repeats has been shown to be the molecular basis of all five folate-sensitive fragile sites characterized molecularly so far, i.e., FRAXA, FRAXE, FRAXF, FRA11B, and FRA16A. Folic Acid 82-88 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 153-158 7874164-1 1994 Three folate-sensitive fragile sites, termed FRAXA, FRAXE and FRAXF, have been identified on the distal end of chromosome Xq. Folic Acid 6-12 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 45-50 10601577-1 2000 The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. Folic Acid 4-10 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 158-163 9384610-2 1998 Most patients have a mutation in the 5" untranslated region of the FMR1 gene, consisting of the amplification of a polymorphic (CGG)nrepeat sequence, and cytogenetically express the folate-sensitive fragile site FRAXA in Xq27.3. Folic Acid 182-188 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 212-217 8651274-1 1996 The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. Folic Acid 4-10 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 158-163 8673085-1 1996 Five folate-sensitive fragile sites have been characterized at the molecular level (FRAXA, FRAXE, FRAXF, FRA16A and FRA11B). Folic Acid 5-11 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 84-89 10222796-1 1999 The folate sensitive fragile site FRAXE is located in Xq28, 600 kb distal to the fragile X syndrome (FRAXA) fragile site. Folic Acid 4-10 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 101-106 10094554-1 1999 FRAXA, FRAXE, and FRAXF are folate-sensitive fragile sites originally discovered in patients with X-linked mental retardation. Folic Acid 28-34 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 0-5 8918933-1 1996 The rare folate-sensitive, fragile sites on chromsomes X, 11, and 16 contain blocks of CCG triplet repeats and large expansions of the CCG block at the FRAXA site produce the fragile X syndrome (FraX). Folic Acid 9-15 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 152-157 34681027-2 2021 These disorders are named for FRAXA, the folate-sensitive fragile site that localizes with the CGG-repeat in individuals with FXS. Folic Acid 41-47 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 30-35 8490650-1 1993 The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5" fragile X gene (FMR-1) at the molecular level. Folic Acid 61-67 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 102-107 1619631-8 1992 A further two families had consistent expression of a different folate sensitive fragile site, FRAXE, close to FRAXA but not associated with fragile X syndrome and not detectable with the pfxa3 probe. Folic Acid 64-70 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 111-116 34567068-8 2021 The folate-sensitive FSs include FRAXA that is associated with Fragile X syndrome (FXS), the most common heritable form of intellectual disability. Folic Acid 4-10 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 33-38 34567068-10 2021 Recent work suggests that both APH-inducible fragile sites and FRAXA undergo Mitotic DNA synthesis (MiDAS) when exposed to APH or folate stress, respectively. Folic Acid 130-136 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) Homo sapiens 63-68