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Mutations in HPSE2 ...
Mutations in HPSE2 cause urofacial syndrome.
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Daly, Sarah B (author)
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Urquhart, Jill E (author)
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Hilton, Emma (author)
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McKenzie, Edward A (author)
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Kammerer, Richard A (author)
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Lewis, Malcolm (author)
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Kerr, Bronwyn (author)
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Stuart, Helen (author)
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Donnai, Dian (author)
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Long, David A (author)
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Burgu, Berk (author)
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- Aydogdu, Özgu, 1978 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology
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Derbent, Murat (author)
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Garcia-Minaur, Sixto (author)
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Reardon, Willie (author)
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Gener, Blanca (author)
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Shalev, Stavit (author)
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Smith, Rupert (author)
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Woolf, Adrian S (author)
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Black, Graeme C (author)
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Newman, William G (author)
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(creator_code:org_t)
- 2010
- 2010
- English.
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In: American journal of human genetics. - 1537-6605. ; 86:6, s. 963-9
- Related links:
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https://gup.ub.gu.se...
Abstract
Subject headings
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- Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb deletion encompassing exons 8 and 9 of HPSE2 was identified. Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS. Mutations were not identified in four additional UFS patients, indicating genetic heterogeneity. We show that HPSE2 is expressed in the fetal and adult central nervous system, where it might be implicated in controlling facial expression and urinary voiding, and also in bladder smooth muscle, consistent with a role in renal tract morphology and function. Our findings have broader implications for understanding the genetic basis of lower renal tract malformations and voiding dysfunction.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Urology and Nephrology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Brain
- metabolism
- Child
- Child
- Preschool
- Chromosome Mapping
- Chromosomes
- Human
- Pair 10
- Facies
- Female
- Genes
- Recessive
- Glucuronidase
- chemistry
- genetics
- metabolism
- Humans
- Male
- Models
- Molecular
- Muscles
- metabolism
- Mutation
- Pedigree
- Syndrome
- Urinary Bladder
- metabolism
- Urologic Diseases
- genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Daly, Sarah B
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Urquhart, Jill E
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Hilton, Emma
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McKenzie, Edward ...
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Kammerer, Richar ...
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Lewis, Malcolm
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show more...
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Kerr, Bronwyn
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Stuart, Helen
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Donnai, Dian
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Long, David A
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Burgu, Berk
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Aydogdu, Özgu, 1 ...
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Derbent, Murat
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Garcia-Minaur, S ...
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Reardon, Willie
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Gener, Blanca
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Shalev, Stavit
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Smith, Rupert
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Woolf, Adrian S
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Black, Graeme C
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Newman, William ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Urology and Neph ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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American journal ...
- By the university
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University of Gothenburg