Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.

abstract：:The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is...

journal_title：Human molecular genetics

authors： Robinson DO,Jacobs PA

更新日期：1999-11-01 00:00:00

abstract：:Adult body height is a quantitative trait for which genome-wide association studies (GWAS) have identified numerous loci, primarily in European populations. These loci, comprising common variants, explain <10% of the phenotypic variance in height. We searched for novel associations between height and common (minor all...

journal_title：Human molecular genetics

authors： Du M,Auer PL,Jiao S,Haessler J,Altshuler D,Boerwinkle E,Carlson CS,Carty CL,Chen YD,Curtis K,Franceschini N,Hsu L,Jackson R,Lange LA,Lettre G,Monda KL,National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing

更新日期：2014-12-15 00:00:00

abstract：:Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here we characterize a meaningful splicing model in which numerous Hemophilia B-causing mutations, either missense or at the donor splice site (5'ss) of coagulation...

journal_title：Human molecular genetics

authors： Balestra D,Barbon E,Scalet D,Cavallari N,Perrone D,Zanibellato S,Bernardi F,Pinotti M

更新日期：2015-09-01 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...

journal_title：Human molecular genetics

authors： Müller FB,Huber M,Kinaciyan T,Hausser I,Schaffrath C,Krieg T,Hohl D,Korge BP,Arin MJ

更新日期：2006-04-01 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no available therapy. SMA is caused by loss or mutation of the survival motor neuron 1 gene, SMN1, with retention of a nearly identical copy gene, SMN2. In contrast to SMN1, most SMN2 transcripts lack exon 7. This alternatively splic...

journal_title：Human molecular genetics

authors： Heier CR,DiDonato CJ

更新日期：2009-04-01 00:00:00

abstract：:Mutations in the parkin gene, encoding an E3 ubiquitin-protein ligase, are a frequent cause of autosomal recessive parkinsonism and are also involved in sporadic Parkinson's disease. Loss of Parkin function is thought to compromise the polyubiquitylation and proteasomal degradation of specific substrates, leading to t...

journal_title：Human molecular genetics

authors： Hampe C,Ardila-Osorio H,Fournier M,Brice A,Corti O

更新日期：2006-07-01 00:00:00

abstract：:Three distinct regions, designated AZFa, b and c from proximal to distal Yq, are required for normal spermato-genesis in humans. Deletions involving AZFa (deletion interval 5C/D) seem to occur less frequently in infertile men and to be associated with a more severe testicular phenotype, with almost complete absence of...

journal_title：Human molecular genetics

authors： Foresta C,Ferlin A,Moro E

更新日期：2000-05-01 00:00:00

abstract：:The DTNBP1 gene, encoding dysbindin, is now generally considered to be a susceptibility gene for schizophrenia. However, the confidence with which this hypothesis can be held has to be tempered by the poor reproducibility between studies in terms of the exact nature of the associated haplotypes, by the failure so far ...

journal_title：Human molecular genetics

authors： Bray NJ,Preece A,Williams NM,Moskvina V,Buckland PR,Owen MJ,O'Donovan MC

更新日期：2005-07-15 00:00:00

abstract：:Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring trios from the Norwegian Mother, Father and Child Cohort Study to optimize runs of homozygosity (RO...

journal_title：Human molecular genetics

authors： Sole-Navais P,Bacelis J,Helgeland Ø,Modzelewska D,Vaudel M,Flatley C,Andreassen O,Njølstad PR,Muglia LJ,Johansson S,Zhang G,Jacobsson B

更新日期：2020-12-08 00:00:00

abstract：:Mutations in the human ortholog of Drosophila patched (PTCH) have been identified in patients with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), characterized by minor developmental anomalies and an increased incidence of cancers such as medulloblastoma and basal cell carcinoma. We identified many i...

journal_title：Human molecular genetics

authors： Nagao K,Togawa N,Fujii K,Uchikawa H,Kohno Y,Yamada M,Miyashita T

更新日期：2005-11-15 00:00:00

abstract：:Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome in which affected individuals have a greatly increased predisposition to the development of haemangioblastomas of the central nervous system and retina, renal cell carcinoma and phaeochromocytoma. The VHL gene has been mapped to chromos...

journal_title：Human molecular genetics

authors： Richards FM,Phipps ME,Latif F,Yao M,Crossey PA,Foster K,Linehan WM,Affara NA,Lerman MI,Zbar B

更新日期：1993-07-01 00:00:00

abstract：:X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by reduced peroxisomal very long chain fatty acid (VLCFA) beta-oxidation. The X - ALD gene product (ALDP) is a peroxisomal transmembrane protein with an ATP binding cassette (ABC). ALDP and three other ABC proteins (PMP70, ALDR, P70R) ...

journal_title：Human molecular genetics

authors： Braiterman LT,Zheng S,Watkins PA,Geraghty MT,Johnson G,McGuinness MC,Moser AB,Smith KD

更新日期：1998-02-01 00:00:00

abstract：:Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date...

journal_title：Human molecular genetics

authors： Yu Y,Bhangale TR,Fagerness J,Ripke S,Thorleifsson G,Tan PL,Souied EH,Richardson AJ,Merriam JE,Buitendijk GH,Reynolds R,Raychaudhuri S,Chin KA,Sobrin L,Evangelou E,Lee PH,Lee AY,Leveziel N,Zack DJ,Campochiaro B,Cam

更新日期：2011-09-15 00:00:00

abstract：:Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in multiple pathways, including RNA metabolism and splicing as well as motoneuron development and function. Here we provide evidence for a major contribut...

journal_title：Human molecular genetics

authors： Nölle A,Zeug A,van Bergeijk J,Tönges L,Gerhard R,Brinkmann H,Al Rayes S,Hensel N,Schill Y,Apkhazava D,Jablonka S,O'mer J,Srivastav RK,Baasner A,Lingor P,Wirth B,Ponimaskin E,Niedenthal R,Grothe C,Claus P

更新日期：2011-12-15 00:00:00

abstract：:Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example ...

journal_title：Human molecular genetics

authors： Laufer BI,Hwang H,Jianu JM,Mordaunt CE,Korf IF,Hertz-Picciotto I,LaSalle JM

更新日期：2021-01-06 00:00:00

abstract：:Parkin E3 ubiquitin-ligase activity and its role in mitochondria homeostasis are thought to play a role in Parkinson's disease (PD). We now report that AF-6 is a novel parkin interacting protein that modulates parkin ubiquitin-ligase activity and mitochondrial roles. Parkin interacts with the AF-6 PDZ region through i...

journal_title：Human molecular genetics

authors： Haskin J,Szargel R,Shani V,Mekies LN,Rott R,Lim GG,Lim KL,Bandopadhyay R,Wolosker H,Engelender S

更新日期：2013-05-15 00:00:00

abstract：:Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BP...

journal_title：Human molecular genetics

authors： Small KW,Stalvey M,Fisher L,Mullen L,Dickel C,Beadles K,Reimer R,Lessner A,Lewis K,Pericak-Vance MA

更新日期：1995-03-01 00:00:00

abstract：:MicroRNAs (miRs) are non-coding RNA molecules involved in cancer initiation and progression. Deregulated miR expression has been implicated in cancer; however, there are no studies implicating an miR signature associated with progression in oral squamous cell carcinoma (OSCC). Although OSCC may develop from oral leuko...

journal_title：Human molecular genetics

authors： Cervigne NK,Reis PP,Machado J,Sadikovic B,Bradley G,Galloni NN,Pintilie M,Jurisica I,Perez-Ordonez B,Gilbert R,Gullane P,Irish J,Kamel-Reid S

更新日期：2009-12-15 00:00:00

abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

journal_title：Human molecular genetics

authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

更新日期：2009-10-01 00:00:00

abstract：:Genetic polymorphisms are thought to play an important role in determining susceptibility to neural tube defects (NTDs), for example between different ethnic groups, but the embryonic manifestation of these polymorphic genetic influences is unclear. We have used a mouse model to test experimentally whether polymorphic...

journal_title：Human molecular genetics

authors： Fleming A,Copp AJ

更新日期：2000-03-01 00:00:00

abstract：:NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and li...

journal_title：Human molecular genetics

authors： Caldas H,Herman GE

更新日期：2003-11-15 00:00:00

abstract：:Biased segregation of mitochondrial DNA variants has been widely documented, but little was known about its molecular basis. We set out to test the hypothesis that altering the balance between mitochondrial fusion and fission could influence the segregation of mutant and wild-type mtDNA variants, because it would modi...

journal_title：Human molecular genetics

authors： Malena A,Loro E,Di Re M,Holt IJ,Vergani L

更新日期：2009-09-15 00:00:00

abstract：:The defective gene responsible for the recessively inherited immunodeficiency X-linked agammaglobulinemia (XLA) has been shown to encode a cytoplasmic protein tyrosine kinase of the Src family designated Btk (Bruton's tyrosine kinase). To facilitate the search for germline mutations of the Btk gene, we have characteri...

journal_title：Human molecular genetics

authors： Hagemann TL,Chen Y,Rosen FS,Kwan SP

更新日期：1994-10-01 00:00:00

abstract：:The RASopathies are a group of genetic syndromes caused by upregulated RAS signaling. Noonan syndrome (NS), the most common entity among the RASopathies, is characterized mainly by short stature, cardiac anomalies and distinctive facial features. Mutations in multiple RAS-MAPK pathway-related genes have been associate...

journal_title：Human molecular genetics

authors： Motta M,Sagi-Dain L,Krumbach OHF,Hahn A,Peleg A,German A,Lissewski C,Coppola S,Pantaleoni F,Kocherscheid L,Altmüller F,Schanze D,Logeswaran T,Chahrokh-Zadeh S,Munzig A,Nakhaei-Rad S,Cavé H,Ahmadian MR,Tartaglia M,Ze

更新日期：2020-07-21 00:00:00

abstract：:The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wi...

journal_title：Human molecular genetics

authors： Feuk L,Marshall CR,Wintle RF,Scherer SW

更新日期：2006-04-15 00:00:00

abstract：:We studied a large Danish family of seven generations in which autosomal dominant retinitis pigmentosa (adRP), a heterogeneous genetic form of retinal dystrophy, was segregating. After linkage had been excluded to all known adRP loci on chromosomes 3q, 6p, 7p, 7q, 8q, 17p, 17q and 19q, a genome screening was performed...

journal_title：Human molecular genetics

authors： Xu SY,Schwartz M,Rosenberg T,Gal A

更新日期：1996-08-01 00:00:00

abstract：:The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway. ATP7A moves from the trans-Golgi network (TGN) to the cell surface in response to exogenously added copper ions and recycles back to ...

journal_title：Human molecular genetics

authors： Cobbold C,Coventry J,Ponnambalam S,Monaco AP

更新日期：2003-07-01 00:00:00

abstract：:Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two clo...

journal_title：Human molecular genetics

authors： Liu C,Bakeri H,Li T,Swaroop A

更新日期：2012-04-15 00:00:00

abstract：:Autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin, is caused by mutations in the Aquaporin-2 (AQP2) gene. Analysis of a new family with dominant NDI revealed a single nucleotide deletion (727deltaG) in one AQP2 allele, which encoded ...

journal_title：Human molecular genetics

authors： Marr N,Bichet DG,Lonergan M,Arthus MF,Jeck N,Seyberth HW,Rosenthal W,van Os CH,Oksche A,Deen PM

更新日期：2002-04-01 00:00:00

abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

journal_title：Human molecular genetics

authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

更新日期：2012-07-01 00:00:00