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  • 1
    Electronic Resource
    Electronic Resource
    A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family (2000)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 143 (2000), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background Hypotrichosis of the Marie Unna type (HMU) is a rare autosomal dominant disorder characterized by male-pattern hair loss with childhood onset and anomalies of the hair shaft.Objectives We aimed to evaluate a number of chromosomal loci as possible candidate regions for HMU. Methods A linkage analysis was performed in a large German family using microsatellite markers spanning candidate regions on chromosomes 8, 12 and 17.Results We found that the HMU locus maps to chromosomal region 8p21 in a 13·01-cM interval between markers D8S1145 and D8S1771. This interval harbours the hairless gene (HR). Mutational analysis of HR on the genomic and transcript levels revealed no pathogenic mutation.Conclusions Our findings, together with a recent report of two unrelated families of Dutch and British origin, provide evidence for a hair growth regulatory gene distinct from HR in chromosomal region 8p21.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2000.03781.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach (2002)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 146 (2002), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Background Genetic disposition and androgen dependence are important characteristics of the common patterned loss of scalp hair known as androgenetic alopecia (AGA). The genetic factors contributing to AGA are currently unknown. The human hairless gene (HR) has recently been cloned and mutations have been reported in families with autosomal recessive universal congenital alopecia and papular atrichia. The main feature of these disorders is persistent complete absence of hair at or shortly after birth. This suggests that HR is essential and specific for the development of hair. Objectives To test the hypothesis that HR may be involved in AGA. Methods We systematically screened HR for genetic variability by means of single-strand conformation analysis (SSCA) in 46 unrelated men with AGA. To test for an involvement of HR in the development of AGA, seven common variants were genotyped in 61 families with 93 affected offspring. The results were analysed with the transmission/disequilibrium test (TDT). Results SSCA showed 15 single nucleotide substitutions: eight missense mutations, four silent mutations and three mutations in exon-flanking intronic sequences. TDT results showed a marginally significant association between AGA and variants 3379–29G/T (P = 0·024) and 2611–68C/T (P = 0·047). These results, however, did not remain significant after applying the conservative Bonferroni correction for multiple testing. Conclusions Our results do not provide evidence for a strong involvement of HR in the development of AGA, although a minor role cannot be fully excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2002.04766.x
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Erbliches kolorektales Karzinom (2000)
    Springer
    Der Onkologe 6 (2000), S. 465-472 
    Details
    ISSN: 1433-0415
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Auf einer autosomal-dominant erblichen Disposition beruhen 5–10% aller kolorektalen Karzinome. Zu den hereditären Tumorerkrankungen des Kolorektums zählen die Familiäre Adenomatöse Polyposis, das Hereditäre Kolorektale Karzinom ohne Polyposis, die Familiäre Juvenile Polyposis und das Peutz-Jeghers-Syndrom. Angesichts des aus genetischen Gründen hohen Risikos für Tumorerkrankungen wird erstgradig Verwandten Betroffener ein intensiviertes Krebsvorsorgeprogramm empfohlen. Die genetischen Grundlagen der genannten Erkrankungen sind heute im Kern bekannt. Mit den zur Verfügung stehenden Verfahren kann bei einem Teil der Familien die Keimbahnmutation in einem der verantwortlichen Gene identifiziert werden. Wenn klinische Befunde und Familienanamnese zur Diagnosestellung nicht ausreichend sind, kann dadurch die Diagnose gesichert werden. Von besonderer Bedeutung ist die molekulargenetische Untersuchung für die prädiktive Diagnostik bei Risikopersonen. Der Nachweis einer Keimbahnmutation bei einem Betroffenen ermöglicht die Identifizierung präsymptomatischer Anlageträger innerhalb seiner Familie und damit eine sichere Aussage bezüglich des Tumorrisikos für die Familienangehörigen. Beziehungen zwischen der Lage der Mutationen in den Genen und der klinischen Ausprägung der Erkrankungen sind teilweise beschrieben, jedoch im Wesentlichen statistischer Natur. Konsequenzen für die Therapie einzelner Betroffener müssen sich daher am klinischen Befund orientieren.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007610070111
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Probe KK5.33 (D5S85) improves indirect genotype analysis in familial adenomatous polyposis (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 422-423 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201852
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 287-290 
    Details
    ISSN: 1432-1076
    Keywords: Arylsulphatase A ; Metachromatic leukodystrophy ; Arylsulphatase A pseudodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a family with a sibship of three children for whom the diagnosis of “an unusual form of metachromatic leukodystrophy (MLD)” had been suggested earlier. The patients had choreiform movements and dystomic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955534
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Dopamine D3 receptor variant and tardive dyskinesia (2000)
    Springer
    European archives of psychiatry and clinical neuroscience 250 (2000), S. 31-35 
    Details
    ISSN: 1433-8491
    Keywords: Key words Pharmacogenetics ; Genetics ; Risk factor ; Choreoathetotic movements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the search for genetic factors contributing to tardive dyskinesia, dopamine receptor genes are considered major candidates. The dopamine D3 receptor is of primary interest as dopamine D3 receptor knock-out mice show locomotor hyperactivation resembling extrapyramidal side-effects of neuroleptic treatment. Furthermore, Steen and colleagues (1997) recently reported an association between tardive dyskinesia and a dopamine D3 receptor gene variant. In the present study we tried to replicate this finding. We investigated 157 patients with schizophrenia or schizoaffective disorder receiving long-term neuroleptic medication who never or persistently displayed tardive dyskinesia. As advanced age is a main risk factor for tardive dyskinesia, we also compared older patients with a long duration of schizophrenia not displaying tardive dyskinesia to younger patients with a shorter duration of the illness displaying tardive dyskinesia. However, we found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00007536
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    Paper (German National Licenses)
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