308 Result(s)

Article

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

Dyskeratosis congenita (DC) is characterised by the failure of those tissues that are rapidly dividing in the adult, particularly the skin and haemopoietic system. The X-linked form of the disease is caused b...

Stuart Knight, Tom Vulliamy, Ben Morgan, Koen Devriendt, Philip Mason… in Human Genetics (2001)

Article

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1–4). ...

Omer T. Njajou, Norbert Vaessen, Marijke Joosse, Bianca Berghuis… in Nature Genetics (2001)

Article

Natural killer gene complex (Nkc) allelic variability in inbred mice: evidence for Nkc haplotypes

Allelic variability for mouse Chromosome 6 Nkc loci was assessed in 22 common laboratory strains of mice using selected natural killer gene complex (Nkc)-linked sequence tagged site markers. Most Nkc markers dis...

Michael G. Brown, Anthony A. Scalzo, Laurie R. Stone, Patricia Y. Clark… in Immunogenetics (2001)

Article

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PL...

Yi Yang, Afif Hentati, Han-**ang Deng, Omar Dabbagh, Toru Sasaki… in Nature Genetics (2001)

Article

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified ...

Rachel V. Baxter, Kamel Ben Othmane, Julie M. Rochelle, Jason E. Stajich… in Nature Genetics (2002)

Article

The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population

Recently, mutations in USH1C were shown to be associated with Usher syndrome type IC, and a mutation (216G→A) in exon 3 was identified in an Acadian family. In addition, a 45-bp variable number of tandem repeat ...

Sevtap Savas, Ben Frischhertz, Mary Z. Pelias, Mark A. Batzer… in Human Genetics (2002)

Article

Timing of the absence of FMR1 expression in full mutation chorionic villi

Fragile X syndrome is caused by the expansion of the CGG repeat in the 5' untranslated region of the FMR1 gene. This expansion leads to methylation of the FMR1 promoter region thereby blocking FMR1 protein (FMRP...

Rob Willemsen, Carola J. Bontekoe, Lies-Anne Severijnen, Ben A. Oostra in Human Genetics (2002)

Article

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive inherited neurological disorder characterized by macrocephaly, deterioration in motor functions and cerebellar ataxia. In Isra...

Bruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, Yair Anikster… in Human Genetics (2002)

Article

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and developmental delay. SSCP analysis and genomic sequencing ...

Jennifer Winter, Tanja Lehmann, Vanessa Suckow, Zofia Kijas… in Human Genetics (2003)

Article

Erosion of the telomeric single-strand overhang at replicative senescence

Cultured primary human cells inevitably enter a state of replicative senescence for which the specific molecular trigger is unknown. We show that the single-strand telomeric overhang, a key component of telome...

Sheila A. Stewart, Ittai Ben-Porath, Vincent J. Carey… in Nature Genetics (2003)

Article

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, m...

Vera M Kalscheuer, Kristine Freude, Luciana Musante, Lars R Jensen… in Nature Genetics (2003)

Article

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening

The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the genetic alterations identified in TWIST, nonsense mut...

Juanliang Cai, Barbara K. Goodman, Ankita S. Patel, John B. Mulliken… in Human Genetics (2003)

Article

Chasing genes in Alzheimer’s and Parkinson’s disease

Alzheimer’s disease (AD), the most common type of dementia, and Parkinson’s disease (PD), the most common movement disorder, are both neurodegenerative adult-onset diseases characterized by the progressive los...

Aida M. Bertoli-Avella, Ben A. Oostra, Peter Heutink in Human Genetics (2004)

Article

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlap** microdeletion on chromosome 8q12 identified by array comparative ...

Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal… in Nature Genetics (2004)

Article

X-linked mental retardation