Freudenreich CH (September 2007). "Chromosome fragility: molecular mechanisms and cellular consequences". Frontiers in ... Holocentric chromosomes were described for the first time by Franz Schrader in 1935, who identified chromosomes with a diffuse ... Holocentric chromosomes are chromosomes that possess multiple kinetochores along their length rather than the single centromere ... Since this first observation, the term holocentric chromosome has referred to chromosomes that: i) lack the primary ...

In some patients, blood tests indicate increased chromosome fragility. Some fetuses die in utero (intrauterine fetal demise)." ... In addition, after DNA is copied, ChlR1 plays a role in ensuring proper separation of each chromosome during cell division. By ...

This condition is caused by a mutation in the SGMS2 gene, located on the long arm of the 4th chromosome. The mutations result ... June 2022). "SGMS2 mutation in a large Filipino family with calvarial doughnut lesions with bone fragility and juvenile-onset ... "KEGG DISEASE: Calvarial doughnut lesions with bone fragility". www.genome.jp. Retrieved 11 October 2022. Pekkinen M, Terhal PA ... Calvarial doughnut lesions-bone fragility syndrome, also known as familial calvarial doughnut lesions, is a rare autosomal ...

... in chromosome 6. It was first discovered in 2002 by Whittock et al. when they described 2 un-related patients with the symptoms ... Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a very rare genetic disorder which is characterized by fragile ... "Skin fragility-woolly hair-palmoplantar keratoderma syndrome - About the Disease - Genetic and Rare Diseases Information Center ... "Orphanet: Skin fragility woolly hair palmoplantar keratoderma syndrome". www.orpha.net. Retrieved 2022-06-04. "OMIM Entry - # ...

... chemotherapy toxicity and may display chromosome fragility" (PDF). Genetics in Medicine. 20 (4): 452-457. doi:10.1038/gim. ... Genes on human chromosome 14, Protein pages needing a picture, Human gene pages with Wikidata item, Human proteins). ... the DNA of a homologous chromosome that is not broken forming a displacement loop (D-loop). After strand invasion, the further ...

Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay ... Furthermore, cells will show chromosomal aberrations, the most frequent being monosomy 7 and partial trisomies of chromosome 3q ... as this gene is on the X chromosome. These genes are involved in DNA repair.[citation needed] The carrier frequency in the ... which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, a 50% chance exists that male ...

"Human chromosome fragility", Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1779 (1): 3-16, doi:10.1016/j. ... A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ... For a database of fragile sites in human chromosomes, see Rare fragile sites (RFSs) are classified into two sub-groups based on ... Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a ...

Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. PKP1 has been shown to ... v t e (CS1: long volume value, Articles with short description, Short description matches Wikidata, Genes on human chromosome 1 ... Skin fragility syndrome GRCh38: Ensembl release 89: ENSG00000081277 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)". Hofmann I, Mertens C, Brettel M, Nimmrich V, ...

... chromosome instability MeSH C23.550.210.110.180 - chromosome fragility MeSH C23.550.210.170 - chromosome breakage MeSH C23.550. ... chromosome fragility MeSH C23.550.382.250 - eosinophilic granuloma MeSH C23.550.382.375 - granuloma annulare MeSH C23.550. ... ring chromosomes MeSH C23.550.210.815 - sex chromosome aberrations MeSH C23.550.210.815.970 - xyy karyotype MeSH C23.550. ... 210.175 - chromosome deletion MeSH C23.550.210.420 - inversion, chromosome MeSH C23.550.210.430 - isochromosomes MeSH C23.550. ...

... chromosome fragility MeSH G13.920.590.175.175 - chromosome breakage MeSH G13.920.590.175.177 - chromosome deletion MeSH G13.920 ... chromosome fragility MeSH G13.380.350 - gene dosage MeSH G13.380.355 - genetic predisposition to disease MeSH G13.380.360 - ... ring chromosomes MeSH G13.920.590.175.815 - sex chromosome aberrations MeSH G13.920.590.175.815.970 - xyy karyotype MeSH ... 420 - inversion, chromosome MeSH G13.920.590.175.430 - isochromosomes MeSH G13.920.590.175.570 - micronuclei, chromosome- ...

... "higher rates of chromosome fragility, higher mortality, and a higher incidence of abnormal fetal development when compared with ...

Tarda was used to classify the modern OI type I and some cases of type IV, where the inherent fragility of the bones did not ... Cases of this type are caused by mutations in the IFITM5 gene on chromosome 11p15.5. The separation of type V from type IV OI, ... Type XIX - OI caused by hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. Thus far, OI type XIX is the only known ... Type VIII - OI caused by a mutation in the gene LEPRE1 on chromosome 1p34.2; clinically similar to OI types II and III, ...

The COL1A1 gene is located on the long (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 50183289 to ... which results in bone fragility and other symptoms. Osteogenesis imperfecta, type II: Many different types of mutations in the ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, CS1: long volume value). ... specific heterozygous arginine-to-cysteine substitution mutations in COL1A1 that are also associated with vascular fragility ...

A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein hSPCA1, causes malformation of the ... Ectodermal dysplasia or skin fragility syndrome is caused by plakophillin 1 mutations. This is manifested by detachment of ...

... arm of chromosome 11 at position 14.3 Molecular location: base pairs 22,192,485 to 22,283,367 on chromosome 11 (Homo sapiens ... GDD causes bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients also experience ...

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, CS1: long volume value ... a connective tissue disorder characterized by bone fragility and low bone mass. GRCh38: Ensembl release 89: ENSG00000170275 - ... 1999). "cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein". Matrix ... characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenet. Cell Genet ...

Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS (2010). "Blue sclera with and without corneal fragility (brittle cornea syndrome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Wikipedia articles ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 16 gene stubs). ...

Upon its recruitment by FANCD2, FAN1 acts to restrain DNA replication fork progression and to prevent chromosome abnormalities ... Analysis of blood samples revealed only mild ICL agent sensitivity and chromosomal fragility consistent with Fanconi Anemia. A ... Portal: Biology (Articles with short description, Short description matches Wikidata, Genes on human chromosome 15, Wikipedia ... suggests that the gapped intermediate that forms following ICL unhooking may be repaired through HR when homologous chromosomes ...

This is caused by a mutation in the gene TGFBR on either chromosome 3 or 9 depending on the type. Ullrich congenital muscular ... Ehlers-Danlos syndromes - a heterogeneous group of disorders characterized by connective tissue fragility. Most, but not all, ...

Type 1 has mutations in the protein disulfide-isomerase (P4HB) gene located on the long arm of chromosome 17 (17q25). Type 2 ... Cole DEC, Carpenter, TO (1987) Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial ... located on the short arm of chromosome 3 (3p22.3). Clinically these forms are very similar and are best differentiated by gene ... have mutations in the protein transport protein Sec24D (SEC24D) gene located on the long arm of chromosome 4 (4q26). A third ...

The human P4HB gene is localized in chromosome 17q25. Unlike other prolyl 4-hydroxylase family proteins, this protein is ... Furthermore, heterozygous missense mutation in P4HB can cause Cole-Carpenter syndrome, a severe bone fragility disorder. P4HB ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, CS1: long volume value, ...

Also, it was observed statistically significant changes in osmotic erythrocyte fragility in TAAR5-KO mice. Mutations in the ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. Bibcode:2003Natur.425..805M. doi: ... Genes on human chromosome 6, Wikipedia articles incorporating text from the United States National Library of Medicine, G ... "Minor Changes in Erythrocyte Osmotic Fragility in Trace Amine-Associated Receptor 5 (TAAR5) Knockout Mice". International ...

Riddoch syndrome Right middle lobe syndrome Riley-Day Syndrome Riley-Day syndrome Ring chromosome 14 syndrome Ring chromosome ... syndrome Singleton Merten syndrome Situs ambiguus Sjögren's syndrome Sjögren-Larsson syndrome Skeeter syndrome Skin fragility ... myelodysplastic syndrome Childhood tumor syndrome Chinese Restaurant Syndrome Chromosomal deletion syndrome Chromosome 5q ...

The gene that codes for PIGA is located on the X chromosome. As males have only a single X chromosome and, in females, one is ... The Ham test involves placing red blood cells in mild acid; a positive result (increased RBC fragility) indicates PNH or ...

The most common mutations are D187N/Y (G654A/T on gene GSN, chromosome 9) with additional reports of G167R, N184K, P432R, A551P ... skin fragility with ecchymosis, facial mask, diffuse hair loss, dry skin, carpal tunnel syndrome, nephrotic syndrome, ...

... , also known as LUM, is an extracellular matrix protein that, in humans, is encoded by the LUM gene on chromosome 12. ... skin fragility and corneal opacity in the absence of lumican". The Journal of Cell Biology. 141 (5): 1277-86. doi:10.1083/jcb. ... to chromosome 12q21.3-q22". Genomics. 27 (3): 481-8. doi:10.1006/geno.1995.1080. PMID 7558030. Iozzo RV, Schaefer L (Mar 2015 ...

The gene for KCa2.3, KCNN3, is located on chromosome 1q21. KCa2.3 is found in the central nervous system (CNS), muscle, liver, ... 2006). "Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility". Hum. ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 1, Neurochemistry, Ion ...

The first case was in 1897 of a male who was described by Bruck as having bone fragility and bone contractures. Bruck was ... Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17". Proceedings of the National Academy of ... Diagnosis of Bruck syndrome must distinguish the association of contractures and skeletal fragility. Ultrasound is used for ... 1998). "Brack syndrome: a rare combination of bone fragility and multiple congenital joint contractures". Journal of Pediatric ...

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 15, All stub articles, ... and multisystem fragility-related manifestations". American Journal of Medical Genetics. Part A. 152A (6): 1333-46. doi:10.1002 ... of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair 40,474,571. The CHST14 gene is 3,611 bases long, ... combined with progressive fragility of affected structures, with increased incidence of bruising, recurrent joint dislocations ...

Homologous chromosomes move and rapidly initiate contact at the sites of double-strand breaks in genes in G0-phase human cells ... DNA topoisomerases participate in fragility of the oncogene RET. PLoS One. 2013 Sep 11;8(9):e75741. Mehta RS, Carty SE, Ohori ...