Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy.

abstract：:Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction. Although the disease occurs predominantly in the Finnish population, many cases in other populations have also been reported. The disease gene (NPHS1) encode...

journal_title：Human molecular genetics

authors： Liu L,Doné SC,Khoshnoodi J,Bertorello A,Wartiovaara J,Berggren PO,Tryggvason K

更新日期：2001-11-01 00:00:00

abstract：:Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3...

journal_title：Human molecular genetics

authors： Seto JT,Lek M,Quinlan KG,Houweling PJ,Zheng XF,Garton F,MacArthur DG,Raftery JM,Garvey SM,Hauser MA,Yang N,Head SI,North KN

更新日期：2011-08-01 00:00:00

abstract：:Huntington disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic polyglutamine stretch within huntingtin, the protein it encodes. Understanding the normal function of this essential protein is vital to u...

journal_title：Human molecular genetics

authors： Strehlow AN,Li JZ,Myers RM

更新日期：2007-02-15 00:00:00

abstract：:Mitochondrial dysfunction is implicated in aging and degenerative disorders such as Parkinson's disease (PD). Continuous fission and fusion of mitochondria shapes their morphology and is essential to maintain oxidative phosphorylation. Loss-of-function mutations in PTEN-induced kinase1 (PINK1) or Parkin cause a recess...

journal_title：Human molecular genetics

authors： Lee S,Sterky FH,Mourier A,Terzioglu M,Cullheim S,Olson L,Larsson NG

更新日期：2012-11-15 00:00:00

abstract：:The breast cancer susceptibility gene BRCA2 encodes a protein of 3418 amino acids which does not exhibit substantial sequence similarity to any other protein in the public databases. A dot matrix comparison of BRCA2 with itself revealed an eight times repeated motif in the segment of the protein encoded by exon 11. As...

journal_title：Human molecular genetics

authors： Bignell G,Micklem G,Stratton MR,Ashworth A,Wooster R

更新日期：1997-01-01 00:00:00

abstract：:Over the past decades the search for disease causing variants has been focusing exclusively on the coding genome. This highly selective approach has been extremely successful resulting in the identification of thousands of disease genes, but ignores the functional and therefore disease relevance of the rest of the gen...

journal_title：Human molecular genetics

authors： Spielmann M,Mundlos S

更新日期：2016-10-01 00:00:00

abstract：:Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone diseas...

journal_title：Human molecular genetics

authors： Cao F,Lu L,Abrams SA,Hawthorne KM,Tam A,Jin W,Dawson B,Shypailo R,Liu H,Lee B,Nagamani SCS,Wang LL

更新日期：2017-08-15 00:00:00

abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

journal_title：Human molecular genetics

authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

更新日期：2011-02-01 00:00:00

abstract：:Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role ...

journal_title：Human molecular genetics

authors： Suraweera A,Lim Y,Woods R,Birrell GW,Nasim T,Becherel OJ,Lavin MF

更新日期：2009-09-15 00:00:00

abstract：:Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a g...

journal_title：Human molecular genetics

authors： Renieri A,Seri M,Myers JC,Pihlajaniemi T,Massella L,Rizzoni G,De Marchi M

更新日期：1992-05-01 00:00:00

abstract：:Recent genome-wide association studies (GWAS) and subsequent meta-analyses have identified over 25 SNPs at 18 loci, together accounting for >15% of the genetic susceptibility to testicular germ cell tumour (TGCT). To identify further common SNPs associated with TGCT, here we report a three-stage experiment, involving ...

journal_title：Human molecular genetics

authors： Litchfield K,Sultana R,Renwick A,Dudakia D,Seal S,Ramsay E,Powell S,Elliott A,Warren-Perry M,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,UKTCC.,Stratton MR,Easton DF,Bishop DT,Huddart RA,Rahman N,Turnbull C,

更新日期：2015-02-15 00:00:00

abstract：:Cerebral small-vessel disease is a common disorder in elderly populations; however, its molecular basis is not well understood. We recently demonstrated that mutations in the high-temperature requirement A (HTRA) serine peptidase 1 (HTRA1) gene cause a hereditary cerebral small-vessel disease, cerebral autosomal reces...

journal_title：Human molecular genetics

authors： Shiga A,Nozaki H,Yokoseki A,Nihonmatsu M,Kawata H,Kato T,Koyama A,Arima K,Ikeda M,Katada S,Toyoshima Y,Takahashi H,Tanaka A,Nakano I,Ikeuchi T,Nishizawa M,Onodera O

更新日期：2011-05-01 00:00:00

abstract：:Insulin-like growth factor II (IGF-II) is a mitogen for many cell types and an important modulator of muscle growth and differentiation. IGF-II gene is prevalently expressed during prenatal development and its gene activity is regulated by genomic imprinting, in that the allele inherited from the father is active and ...

journal_title：Human molecular genetics

authors： Pedone PV,Tirabosco R,Cavazzana AO,Ungaro P,Basso G,Luksch R,Carli M,Bruni CB,Frunzio R,Riccio A

更新日期：1994-07-01 00:00:00

abstract：:Cystathionine beta-synthase (CBS) deficiency is the major cause of homocystinuria in humans. The most frequent symptoms of homocystinuria include: dislocated optic lenses, vascular disorders, skeletal abnormalities and mental retardation. Patients with this deficiency have elevated levels of homocyst(e)ine, methionine...

journal_title：Human molecular genetics

authors： Kraus JP,Le K,Swaroop M,Ohura T,Tahara T,Rosenberg LE,Roper MD,Kozich V

更新日期：1993-10-01 00:00:00

abstract：:Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical disease caused by weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette-Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon (IFN)-γ immunity. Germline bi...

journal_title：Human molecular genetics

authors： Oleaga-Quintas C,Deswarte C,Moncada-Vélez M,Metin A,Krishna Rao I,Kanık-Yüksek S,Nieto-Patlán A,Guérin A,Gülhan B,Murthy S,Özkaya-Parlakay A,Abel L,Martínez-Barricarte R,Pérez de Diego R,Boisson-Dupuis S,Kong XF,Casanova

更新日期：2018-11-15 00:00:00

abstract：:In studies of genomic imprinting in the Prader-Willi/Angelman domain, an agouti coat color cassette was inserted into the downstream open reading frame (ORF) of the imprinted bicistronic Snurf-Snrpn locus in the mouse. The fusion gene was maternally silenced, as is Snurf-Snrpn, and produced a tan abdomen only when inh...

journal_title：Human molecular genetics

authors： Tsai TF,Chen KS,Weber JS,Justice MJ,Beaudet AL

更新日期：2002-07-01 00:00:00

abstract：:The clearest example of genomic imprinting in humans comes from studies of the Angelman (AS) and Prader-Willi (PWS) syndromes. Although these are clinically distinct disorders, both typically result from a loss of the same chromosomal region, 15q11-q13. AS usually results from either a maternal deletion of this region...

journal_title：Human molecular genetics

authors： Glenn CC,Nicholls RD,Robinson WP,Saitoh S,Niikawa N,Schinzel A,Horsthemke B,Driscoll DJ

更新日期：1993-09-01 00:00:00

abstract：:Friedreich ataxia is commonly caused by large expansions of a GAA triplet-repeat (GAA-TR) sequence in the first intron of the FRDA gene. We used small-pool PCR to analyze somatic variability among 7190 individual FRDA molecules from peripheral blood DNA of subjects carrying 12 different expanded alleles, ranging in si...

journal_title：Human molecular genetics

authors： Sharma R,Bhatti S,Gomez M,Clark RM,Murray C,Ashizawa T,Bidichandani SI

更新日期：2002-09-01 00:00:00

abstract：:Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and genetic studies im...

journal_title：Human molecular genetics

authors： Xu YH,Xu K,Sun Y,Liou B,Quinn B,Li RH,Xue L,Zhang W,Setchell KD,Witte D,Grabowski GA

更新日期：2014-08-01 00:00:00

abstract：:Spliceosomal Uridine-rich small ribonucleo protein (U snRNP) assembly is an active process mediated by the macromolecular survival motor neuron (SMN) complex. This complex contains the SMN protein and six additional proteins, named Gemin2-7, according to their localization to nuclear structures termed gems. Here, we p...

journal_title：Human molecular genetics

authors： Grimmler M,Otter S,Peter C,Müller F,Chari A,Fischer U

更新日期：2005-10-15 00:00:00

abstract：:Niemann-Pick type C (NPC) disease, an autosomal recessive disorder caused primarily by loss-of-function mutations in NPC1 gene, is characterized neuropathologically by intracellular cholesterol accumulation, gliosis and neuronal loss in selected brain regions. Recent studies have shown that NPC disease exhibits intrig...

journal_title：Human molecular genetics

authors： Maulik M,Ghoshal B,Kim J,Wang Y,Yang J,Westaway D,Kar S

更新日期：2012-11-15 00:00:00

abstract：:We have used the direct cDNA screening protocol to identify sequences transcribed in cerebral cortex from a reference library of human Xq28. To derive coding sequences from these genomic clones, we first identified fragments containing transcribed sequences and subjected these to exon trapping or to partial sequencing...

journal_title：Human molecular genetics

authors： Lawrence BJ,Schwabe W,Kioschis P,Coy JF,Poustka A,Brennan MB,Hochgeschwender U

更新日期：1994-11-01 00:00:00

abstract：:PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. It is a critical facilitator of Notch signalling and many other signalling pathways and protein cleavage events including produ...

journal_title：Human molecular genetics

authors： Newman M,Wilson L,Verdile G,Lim A,Khan I,Moussavi Nik SH,Pursglove S,Chapman G,Martins RN,Lardelli M

更新日期：2014-02-01 00:00:00

abstract：:Ribonuclease H2 plays an essential role for genome stability as it removes ribonucleotides misincorporated into genomic DNA by replicative polymerases and resolves RNA/DNA hybrids. Biallelic mutations in the genes encoding the three RNase H2 subunits cause Aicardi-Goutières syndrome (AGS), an early-onset inflammatory ...

journal_title：Human molecular genetics

authors： Kind B,Muster B,Staroske W,Herce HD,Sachse R,Rapp A,Schmidt F,Koss S,Cardoso MC,Lee-Kirsch MA

更新日期：2014-11-15 00:00:00

abstract：:The unconventional myosin genes Myo15, Myo6 and Myo7a are essential for hearing in both humans and mice. Despite the expression of each gene in multiple organs, mutations result in identifiable phenotypes only in auditory or ocular sensory organs. The pirouette (pi) mouse also exhibits deafness and an inner ear pathol...

journal_title：Human molecular genetics

authors： Karolyi IJ,Probst FJ,Beyer L,Odeh H,Dootz G,Cha KB,Martin DM,Avraham KB,Kohrman D,Dolan DF,Raphael Y,Camper SA

更新日期：2003-11-01 00:00:00

abstract：:The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shorten...

journal_title：Human molecular genetics

authors： Zhang W,Taylor SP,Nevarez L,Lachman RS,Nickerson DA,Bamshad M,University of Washington Center for Mendelian Genomics Consortium.,Krakow D,Cohn DH

更新日期：2016-09-15 00:00:00

abstract：:The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene. The hypomorphic nature of the mutations is believed to support viability, but this is not always apparent. One such mutation is IVS7+2T>G, which causes premature ...

journal_title：Human molecular genetics

authors： Thirthagiri E,Klarmann KD,Shukla AK,Southon E,Biswas K,Martin BK,North SL,Magidson V,Burkett S,Haines DC,Noer K,Matthai R,Tessarollo L,Loncarek J,Keller JR,Sharan SK

更新日期：2016-05-15 00:00:00

abstract：:Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), indicating that GDAP1 is essential for the viability of cells in the peripheral nervous system. GDAP1 contains domains characteristic of glutathione-S-transferases (GSTs), is located in the outer ...

journal_title：Human molecular genetics

authors： Noack R,Frede S,Albrecht P,Henke N,Pfeiffer A,Knoll K,Dehmel T,Meyer Zu Hörste G,Stettner M,Kieseier BC,Summer H,Golz S,Kochanski A,Wiedau-Pazos M,Arnold S,Lewerenz J,Methner A

更新日期：2012-01-01 00:00:00

abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

journal_title：Human molecular genetics

authors： van Reeuwijk J,Arts HH,Roepman R

更新日期：2011-10-15 00:00:00

abstract：:Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental retardation loci). Genes involved in the phenotypes have been isolated for only two of them (Menkes and SCIDX). It was...

journal_title：Human molecular genetics

authors： Gecz J,Pollard H,Consalez G,Villard L,Stayton C,Millasseau P,Khrestchatisky M,Fontes M

更新日期：1994-01-01 00:00:00