by the CHD7 gene. CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated...
13 KB (1,571 words) - 02:42, 19 December 2023
CHARGE syndrome, but the name remains. About two thirds of cases are due to a CHD7 mutation. CHARGE syndrome occurs only in 0.1–1.2 per 10,000 live births;...
14 KB (1,581 words) - 01:36, 19 August 2024
Adolescent idiopathic scoliosis (section CHD7)
chromosome 8). Further genetic testing found 23 different polymorphisms in the CHD7 gene of these same patients, all of which were located inside a 116-kb genomic...
43 KB (4,842 words) - 16:26, 27 May 2024
associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROKR2, NELF, CHD7(which positively regulates GnRH secretion), HS6ST1, FLRT3, SPRY4, DUSP6,...
6 KB (518 words) - 14:47, 15 September 2023
frequently referred to as "CHARGE association". When the major causative gene (CHD7) for the condition was discovered, the name was changed. The consensus underlying...
16 KB (1,759 words) - 21:13, 25 May 2024
nucleosomes. Studies of Sanosaka et al 2022, says that Chromatin remodeler CHD7 regulate cell type-specific gene expression in human neural crest cells....
53 KB (5,924 words) - 04:55, 20 August 2024
coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19 COX7B CRIM1 CRYAA CRYBA4 CRYBB2 DHX38 DPYD ERCC1 ERCC5 FADD FAM111A...
25 KB (2,173 words) - 09:44, 18 March 2024
43% (32.0–53.0) Clinically defined CHARGE syndrome Monogenic disorder: CHD7 8 28% (16–41) Clinically defined Noonan's syndrome Polygenic disorder 15%...
17 KB (1,194 words) - 06:44, 8 July 2024
2014 superyacht Kismet, a Drosophila Trithorax-group protein homologous to CHD7 Akismet, a server-based spam filter Ashima, Semitic goddess of fate Destiny...
3 KB (441 words) - 03:08, 13 January 2024
development of scoliosis have not been conclusively identified. At least one gene, CHD7, has been associated with the idiopathic form of scoliosis. Several candidate...
81 KB (8,416 words) - 05:48, 3 August 2024
Histone acetylation and deacetylation Histone deacetylase HDAC1 Histone acetyltransferase DNA methylation: DNA methyltransferase Chromatin remodeling: CHD7...
58 KB (6,787 words) - 20:17, 9 August 2024
have been discovered include the transcriptional regulators SOX2, MYCN, CHD7, FANCB, and members of FOX transcription factor family. Others plausible...
26 KB (2,723 words) - 20:17, 19 July 2024
1:100,000 Charcot–Marie–Tooth disease PMP22, MFN2 1:2,500 CHARGE syndrome CHD7 1:8,500-10,000 Chédiak–Higashi syndrome LYST recessive 1:39,000,000 Chondrodysplasia...
42 KB (983 words) - 10:34, 21 August 2024
helicase DNA binding protein: CHD1, CHD1L, CHD2, CHD3, CHD4, CHD5, CHD6, CHD7, CHD8, CHD9 DEAD box/DEAD/DEAH box helicase: DDX3X, DDX5, DDX6, DDX10, DDX11...
56 KB (6,916 words) - 19:33, 23 July 2024
has been linked recently to haploinsufficiency of CHD7, which encodes the CHD family ATPase CHD7. Chromatin architectural remodeling is implicated in...
50 KB (5,523 words) - 09:43, 3 December 2023
HGNC:1919 Q14839 2952 CHD5 HGNC:16816 Q8TDI0 2953 CHD6 HGNC:19057 Q8TD26 2954 CHD7 HGNC:20626 Q9P2D1 2955 CHD8 HGNC:20153 Q9HCK8 2956 CHD9 HGNC:25701 Q3L8U1...
277 KB (17 words) - 23:17, 27 April 2024
novel series, part of the Honorverse fictional milieu created by David Weber CHD7, also known as HH5, the chromodomain-helicase-DNA-binding protein 7 Search...
679 bytes (131 words) - 02:04, 4 December 2023
Ravenswaaij-Arts, C. M.; Hoefsloot, L. H. (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome". Human Mutation. 33 (8): 1149–60. doi:10...
30 KB (2,436 words) - 20:52, 5 January 2024
Coiled-coil domain containing 166 CCDC25: coiled-coil domain containing protein 25 CHD7: chromodomain helicase DNA binding protein 7 CHMP4C: Charged multivesicular...
29 KB (1,896 words) - 23:26, 28 March 2024
Autosomal 46,XY, male-to-female sex reversal (phenotypically perfect females) CHD7 Chromodomain-helicase-DNA-binding protein 7 CHARGE syndrome and Kallmann...
63 KB (7,112 words) - 11:14, 23 July 2024
syndrome (when associated with thymic defects) TBX1 deficiency CHARGE syndrome (CHD7 deficiency or SEMA3E deficiency) Winged helix/FOXN1 deficiency Chromosome...
19 KB (1,836 words) - 09:52, 5 July 2024
Cockayne syndrome type B (CSB), cerebro-oculo-facio-skeletal syndrome 1 (COFS1) CHD7 AD CHARGE syndrome HDAC6 XLD Chondrodysplasia with platyspondyly, distinctive...
13 KB (538 words) - 09:46, 18 March 2024
6-16, 5-10 146110 GNRHR GNRHR 4q13.2 Autosomal recessive 6, 5-10 612370 CHD7 CHD7 8q12.2 Congenital hearing loss. Semicircular canal hypoplasia. CHARGE...
12 KB (612 words) - 10:54, 4 January 2024
assembled, accessed or edited. Proteins in the family: CHD1 CHD2 CHD3 CHD5 CHD7 Clapier, Cedric R.; Iwasa, Janet; Cairns, Bradley R.; Peterson, Craig L....
6 KB (756 words) - 11:06, 22 February 2024
these syndromes exhibit a variety of symptoms because the genes TBX1 and CHD7, which are linked to these specific disorders, are involved in the development...
23 KB (2,114 words) - 21:33, 19 February 2024
CHARGE and died. Researchers also demonstrated a link between p53 and the CHD7 gene, which often displays mutations in cases of CHARGE. Attardi uses mice...
13 KB (1,040 words) - 12:25, 4 January 2024
protein. TBX1 is thought to operate on the same developmental pathway as CHD7 which can be mutated in CHARGE syndrome. Most cases of 22q11.2 deletion syndrome...
7 KB (903 words) - 16:39, 24 October 2023
neuropathy, X-linked dominant, 1; 302800; GJB1 CHARGE syndrome; 214800; CHD7 CHARGE syndrome; 214800; SEMA3E Chédiak–Higashi syndrome; 214500; CHS1 Cherubism;...
234 KB (18,877 words) - 15:43, 9 May 2024