Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

abstract：:New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of the Human Genome Variation Society (HGVS, http://www.hgvs.org/mutnomen), because ...

journal_title：Human mutation

authors： Taschner PE,den Dunnen JT

更新日期：2011-05-01 00:00:00

abstract：:Fibroblast growth factor 9 (FGF9) is a member of secreted polypeptide families and involved in many important biological processes, including implantation and morphogenesis during embryogenesis and adult life. Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 i...

journal_title：Human mutation

authors： Chen TM,Kuo PL,Hsu CH,Tsai SJ,Chen MJ,Lin CW,Sun HS

更新日期：2007-01-01 00:00:00

abstract：:The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant interpretation. We ...

journal_title：Human mutation

authors： Mester JL,Ghosh R,Pesaran T,Huether R,Karam R,Hruska KS,Costa HA,Lachlan K,Ngeow J,Barnholtz-Sloan J,Sesock K,Hernandez F,Zhang L,Milko L,Plon SE,Hegde M,Eng C

更新日期：2018-11-01 00:00:00

abstract：:Harmonization of cancer variant representation, efficient communication, and free distribution of clinical variant-associated knowledge are central problems that arise with increased usage of clinical next-generation sequencing. The Clinical Genome Resource (ClinGen) Somatic Working Group (WG) developed a minimal vari...

journal_title：Human mutation

authors： Danos AM,Ritter DI,Wagner AH,Krysiak K,Sonkin D,Micheel C,McCoy M,Rao S,Raca G,Boca SM,Roy A,Barnell EK,McMichael JF,Kiwala S,Coffman AC,Kujan L,Kulkarni S,Griffith M,Madhavan S,Griffith OL,Clinical Genome Resourc

更新日期：2018-11-01 00:00:00

abstract：:Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. We report the molecular characterization of a de novo balanced t(2;7)(q37.1;q21.3) tr...

journal_title：Human mutation

authors： Bocciardi R,Giorda R,Buttgereit J,Gimelli S,Divizia MT,Beri S,Garofalo S,Tavella S,Lerone M,Zuffardi O,Bader M,Ravazzolo R,Gimelli G

更新日期：2007-07-01 00:00:00

abstract：:Genomic variations with no apparent effect ("neutral polymorphisms") may have a significant effect on splicing. The effect of this type of mutation is difficult to spot, unless a functional assay is undertaken. In our study, DNA sequencing of a patient with clinically defined neurofibromatosis type 1 (NF1) showed only...

journal_title：Human mutation

authors： Raponi M,Upadhyaya M,Baralle D

更新日期：2006-03-01 00:00:00

abstract：:Deficiency of propionyl-CoA carboxylase (PCC) results in propionic acidemia, an autosomal recessive disorder characterized by ketoacidosis sufficiently severe to cause neonatal death. PCC is involved in the catabolism of branched-chain amino acids, odd-chain fatty acids, and cholesterol. The enzyme is a biotin-depende...

journal_title：Human mutation

authors： Chloupkova M,Maclean KN,Alkhateeb A,Kraus JP

更新日期：2002-06-01 00:00:00

abstract：:Chromosomal rearrangements such as microdeletions and interstitial duplications are the underlying cause of many human genetic disorders. These disorders can manifest in the form of multiple congenital anomalies (MCA), which are a significant cause of morbidity and mortality in children. The major limitations of cytog...

journal_title：Human mutation

authors： Ming JE,Geiger E,James AC,Ciprero KL,Nimmakayalu M,Zhang Y,Huang A,Vaddi M,Rappaport E,Zackai EH,Shaikh TH

更新日期：2006-05-01 00:00:00

abstract：:Primary vesicoureteral reflux (pVUR) is a common, genetically heterogeneous congenital urinary tract abnormality in children. It causes urine to flow backward from the bladder to the ureter due to a developmental defect at the vesicoureteral junction, whose formation requires rearrangement during transformation (Ret)-...

journal_title：Human mutation

authors： Yang Y,Houle AM,Letendre J,Richter A

更新日期：2008-05-01 00:00:00

abstract：:Lynch syndrome (LS), the most common familial colon cancer, is associated with mismatch repair (MMR) malfunction. As mutation carriers inherit one normal and one defected MMR gene allele, cancer risk can be considered as limited amount of normal MMR gene product. How reductions in different MMR gene expressions affect...

journal_title：Human mutation

authors： Kansikas M,Kasela M,Kantelinen J,Nyström M

更新日期：2014-09-01 00:00:00

abstract：:We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacterised PKU chromosome...

journal_title：Human mutation

authors： Kasnauskiene J,Giannattasio S,Lattanzio P,Cimbalistiene L,Kucinskas V

更新日期：2003-04-01 00:00:00

abstract：:Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this tec...

journal_title：Human mutation

authors： Fakhrai-Rad H,Pourmand N,Ronaghi M

更新日期：2002-05-01 00:00:00

abstract：:We have screened index cases from 25 Russian breast/ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using multiplex heteroduplex analysis. In addition we tested 22 patients with breast cancer diagnosed before age 40 without family history and 6 patients with bilateral ...

journal_title：Human mutation

authors： Tereschenko IV,Basham VM,Ponder BA,Pharoah PD

更新日期：2002-02-01 00:00:00

abstract：:Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations in 35 unrelated Brazilian patients with heterozygous FH...

journal_title：Human mutation

authors： Salazar LA,Hirata MH,Cavalli SA,Nakandakare ER,Forti N,Diament J,Giannini SD,Bertolami MC,Hirata RD

更新日期：2002-04-01 00:00:00

abstract：:Here we present a computational model, Score of Unified Regulatory Features (SURF), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect of variants on reporter expression levels. It achieved the top performance in ...

journal_title：Human mutation

authors： Dong S,Boyle AP

更新日期：2019-09-01 00:00:00

abstract：:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 1...

journal_title：Human mutation

authors： Lehtokari VL,Pelin K,Sandbacka M,Ranta S,Donner K,Muntoni F,Sewry C,Angelini C,Bushby K,Van den Bergh P,Iannaccone S,Laing NG,Wallgren-Pettersson C

更新日期：2006-09-01 00:00:00

abstract：:A tiling X-chromosome-specific genomic array with a theoretical resolution of 80 kb was developed to screen patients with idiopathic mental retardation (MR) for submicroscopic copy number differences. Four patients with aberrations previously detected at lower resolution were first analyzed. This facilitated delineati...

journal_title：Human mutation

authors： Froyen G,Van Esch H,Bauters M,Hollanders K,Frints SG,Vermeesch JR,Devriendt K,Fryns JP,Marynen P

更新日期：2007-10-01 00:00:00

abstract：:The beta-cell ATP-sensitive potassium channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events, bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis, it is not surprising that mutation...

journal_title：Human mutation

authors： Gloyn AL,Siddiqui J,Ellard S

更新日期：2006-03-01 00:00:00

abstract：:Familial cerebral cavernous malformation (FCCM) is an autosomal dominant vascular disorder caused by heterozygous deleterious variants in KRIT1, CCM2 or PDCD10. In a previous study, we presented the clinical and molecular findings in 140 FCCM individuals. In the present work, we report supporting information on (a) ap...

journal_title：Human mutation

authors： Fusco C,Copetti M,Mazza T,Amoruso L,Mastroianno S,Nardella G,Guarnieri V,Micale L,D'Agruma L,Castori M

更新日期：2019-11-01 00:00:00

abstract：:Several different genetic alterations in the etiology of Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]) are known, mostly point mutations and genomic rearrangements in 1 of at least 3 mismatch-repair (MMR) genes. However, no susceptibility factor has yet been identified in a significant part (30-50...

journal_title：Human mutation

authors： Kovacs ME,Papp J,Szentirmay Z,Otto S,Olah E

更新日期：2009-02-01 00:00:00

abstract：:The joint Open PHACTS/GEN2PHEN workshop on "Solving Bottlenecks in Data Sharing in the Life Sciences" was held in Volendam, the Netherlands, on September 19 and 20, 2011, and was attended by representatives from academia, industry, publishing, and funding agencies. The aim of the workshop was to explore the issues tha...

journal_title：Human mutation

authors： Dalgleish R,Molero E,Kidd R,Jansen M,Past D,Robl A,Mons B,Diaz C,Mons A,Brookes AJ

更新日期：2012-10-01 00:00:00

abstract：:Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated chloride channel. The R347P is a missense mutation located within the first membrane spanning domain (MSD1) of the CFTR protein. This mutation occurs with an overal...

journal_title：Human mutation

authors： Varon R,Stuhrmann M,Macek M Jr,Kufardjieva A,Angelicheva D,Magdorf K,Jordanova A,Savov A,Wahn U,Macek M

更新日期：1995-01-01 00:00:00

abstract：:We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and...

journal_title：Human mutation

authors： Mercier B,Lissens W,Audrézet MP,Bonduelle M,Liebaers I,Ferec C

更新日期：1993-01-01 00:00:00

abstract：:The Enzymatic Mutation Detection (EMDtrade mark) method is a streamlined and improved version of the original Enzymatic Cleavage of Mismatch (EMC) method. EMD is a fully homogeneous, rapid four step procedure that allows for detection and localization of mismatched or unmatched nucleotides within heteroduplex DNA. To ...

journal_title：Human mutation

authors： Youil R,Toner TJ,Bull E,Bailey AL,Earl CD,Dietz HC,Montgomery RA

更新日期：2000-07-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a genetic heterogeneous disease with high mortality and poor prognosis. However, a large fraction of genetic cause remains unexplained, especially in sporadic IPF (∼80% IPF). By systemically reviewing related literature and potential pathogenic pathways, 92 potentially IPF-relate...

journal_title：Human mutation

authors： Deng Y,Li Z,Liu J,Wang Z,Cao Y,Mou Y,Fu B,Mo B,Wei J,Cheng Z,Luo L,Li J,Shu Y,Wang X,Luo G,Yang S,Wang Y,Zhu J,Yang J,Wu M,Xu X,Ge R,Chen X,Peng Q,Wei G,Li Y,Yang H,Fang S,Zhang X,Xiong W

更新日期：2018-09-01 00:00:00

abstract：:Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotr...

journal_title：Human mutation

authors： Hinard V,Britan A,Schaeffer M,Zahn-Zabal M,Thomet U,Rougier JS,Bairoch A,Abriel H,Gaudet P

更新日期：2017-05-01 00:00:00

abstract：:Sialidosis is an autosomal recessive disease resulting from a deficiency of lysosomal sialidase. Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, hepatosplenomegaly, and severe psychomotor retardation. Genomic DNA from four unrelated sialidosis patients was screened for mutations withi...

journal_title：Human mutation

authors： Pattison S,Pankarican M,Rupar CA,Graham FL,Igdoura SA

更新日期：2004-01-01 00:00:00

abstract：:In reduced representation bisulfite sequencing (RRBS), genomic DNA is digested with the restriction enzyme and then subjected to next-generation sequencing, which enables detection and quantification of DNA methylation at whole-genome scale with low cost. However, the data processing, interpretation, and analysis of t...

journal_title：Human mutation

authors： Wang T,Liu Q,Li X,Wang X,Li J,Zhu X,Sun ZS,Wu J

更新日期：2013-12-01 00:00:00

abstract：:Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of ...

journal_title：Human mutation

authors： Lissens W,De Meirleir L,Seneca S,Benelli C,Marsac C,Poll-The BT,Briones P,Ruitenbeek W,van Diggelen O,Chaigne D,Ramaekers V,Liebaers I

更新日期：1996-01-01 00:00:00

abstract：:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and...

journal_title：Human mutation

authors： Bogdanova N,Lemcke B,Markoff A,Pollmann H,Dworniczak B,Eigel A,Horst J

更新日期：2001-12-01 00:00:00