The molecular pathogenesis of migraine: new developments and opportunities.

abstract：:Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have led to the hypothesis that SVAS results from mutations in the elastin gene, ELN. In these studies, the disease phenotype was linked to...

journal_title：Human molecular genetics

authors： Li DY,Toland AE,Boak BB,Atkinson DL,Ensing GJ,Morris CA,Keating MT

更新日期：1997-07-01 00:00:00

abstract：:Multiple intergenic single-nucleotide polymorphisms (SNPs) near hedgehog interacting protein (HHIP) on chromosome 4q31 have been strongly associated with pulmonary function levels and moderate-to-severe chronic obstructive pulmonary disease (COPD). However, whether the effects of variants in this region are related to...

journal_title：Human molecular genetics

authors： Zhou X,Baron RM,Hardin M,Cho MH,Zielinski J,Hawrylkiewicz I,Sliwinski P,Hersh CP,Mancini JD,Lu K,Thibault D,Donahue AL,Klanderman BJ,Rosner B,Raby BA,Lu Q,Geldart AM,Layne MD,Perrella MA,Weiss ST,Choi AM,Silverm

更新日期：2012-03-15 00:00:00

abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

journal_title：Human molecular genetics

authors： Berwick DC,Harvey K

更新日期：2012-11-15 00:00:00

abstract：:To determine factors governing triplet repeat expansion at FMR1, we need to understand the basis of normal variation. We have sequenced the FMR1 repeat from 102 normal X chromosomes and show that most are interrupted with a regularly spaced AGG trinucleotide giving an ordered structure to the array. Five types of arra...

journal_title：Human molecular genetics

authors： Hirst MC,Grewal PK,Davies KE

更新日期：1994-09-01 00:00:00

abstract：:Expression of misfolded protein in cultured cells frequently leads to the formation of juxtanuclear inclusions that have been termed 'aggresomes'. Aggresome formation is an active cellular response that involves trafficking of the offending protein along microtubules, reorganization of intermediate filaments and recru...

journal_title：Human molecular genetics

authors： Taylor JP,Tanaka F,Robitschek J,Sandoval CM,Taye A,Markovic-Plese S,Fischbeck KH

更新日期：2003-04-01 00:00:00

abstract：:Leukocyte telomere length (LTL) might be causal in cardiovascular disease and major cancers. To elucidate the roles of genetics and geography in LTL variability across humans, we compared LTL measured in 1295 sub-Saharan Africans (SSAs) with 559 African-Americans (AAms) and 2464 European-Americans (EAms). LTL differed...

journal_title：Human molecular genetics

authors： Hunt SC,Hansen MEB,Verhulst S,McQuillan MA,Beggs W,Lai TP,Mokone GG,Mpoloka SW,Meskel DW,Belay G,Nyambo TB,Abnet CC,Yeager M,Chanock SJ,Province MA,Williams SM,Aviv A,Tishkoff SA

更新日期：2020-11-04 00:00:00

abstract：:Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable...

journal_title：Human molecular genetics

authors： Aubart M,Gross MS,Hanna N,Zabot MT,Sznajder M,Detaint D,Gouya L,Jondeau G,Boileau C,Stheneur C

更新日期：2015-05-15 00:00:00

abstract：:Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause...

journal_title：Human molecular genetics

authors： McCampbell A,Truong D,Broom DC,Allchorne A,Gable K,Cutler RG,Mattson MP,Woolf CJ,Frosch MP,Harmon JM,Dunn TM,Brown RH Jr

更新日期：2005-11-15 00:00:00

abstract：:Parkinson's disease (PD) is characterized by selective degeneration of dopaminergic neurons. Although the etiology of PD remains incompletely understood, oxidative stress has been implicated as an important contributor in the development of PD. Oxidative stress can lead to oxidation and functional perturbation of prot...

journal_title：Human molecular genetics

authors： Johnson WM,Yao C,Siedlak SL,Wang W,Zhu X,Caldwell GA,Wilson-Delfosse AL,Mieyal JJ,Chen SG

更新日期：2015-03-01 00:00:00

abstract：:Recent studies have made great strides towards identifying putative genetic events underlying the evolution of the human brain and its emergent cognitive capacities. One of the most intriguing findings is the recurrent identification of adaptive evolution in genes associated with primary microcephaly, a developmental ...

journal_title：Human molecular genetics

authors： Mekel-Bobrov N,Posthuma D,Gilbert SL,Lind P,Gosso MF,Luciano M,Harris SE,Bates TC,Polderman TJ,Whalley LJ,Fox H,Starr JM,Evans PD,Montgomery GW,Fernandes C,Heutink P,Martin NG,Boomsma DI,Deary IJ,Wright MJ,de Geus

更新日期：2007-03-15 00:00:00

abstract：:Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. Most of these mutations are found in the third exon of the gene encoding the olfactomedin-like domain located at the C terminus of the protein. Another o...

journal_title：Human molecular genetics

authors： Torrado M,Trivedi R,Zinovieva R,Karavanova I,Tomarev SI

更新日期：2002-05-15 00:00:00

abstract：:Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence su...

journal_title：Human molecular genetics

authors： Vianello S,Pantic B,Fusto A,Bello L,Galletta E,Borgia D,Gavassini BF,Semplicini C,Sorarù G,Vitiello L,Pegoraro E

更新日期：2017-09-01 00:00:00

abstract：:Parkin is a multifunctional protein, including maintaining mitochondrial homeostasis. Recent evidence suggests that Parkin is recruited from the cytoplasm to damaged mitochondria with low membrane potential. We found that intracellular localization of Parkin changed with cellular growth phase. Parkin was preferentiall...

journal_title：Human molecular genetics

authors： Kuroda Y,Sako W,Goto S,Sawada T,Uchida D,Izumi Y,Takahashi T,Kagawa N,Matsumoto M,Matsumoto M,Takahashi R,Kaji R,Mitsui T

更新日期：2012-03-01 00:00:00

abstract：:Osteoarthritis is a common, complex disease with no curative therapy. In this review, we summarize current knowledge on disease aetiopathogenesis and outline genetics and genomics approaches that are helping catalyse a much-needed improved understanding of the biological underpinning of disease development and progres...

journal_title：Human molecular genetics

authors： Cibrián Uhalte E,Wilkinson JM,Southam L,Zeggini E

更新日期：2017-10-01 00:00:00

abstract：:Atopic (allergic) asthma is the most common disease of childhood and is strongly genetic in origin. Many genome-wide screens for asthma and its associated traits have now been carried out, and genetic linkage has been consistently identified in several regions. It is probable that these loci contain major genes influe...

journal_title：Human molecular genetics

authors： Cookson WO,Moffatt MF

更新日期：2000-10-01 00:00:00

abstract：:Huntington's disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates. Here we ask whether expanded polyQ is sufficient to cause pathology and aggregate formation. By addressing the sufficiency questi...

journal_title：Human molecular genetics

authors： Chongtham A,Bornemann DJ,Barbaro BA,Lukacsovich T,Agrawal N,Syed A,Worthge S,Purcell J,Burke J,Chin TM,Marsh JL

更新日期：2020-03-13 00:00:00

abstract：:Galphaq, encoded by the human GNAQ gene, is an effector subunit of the Gq heterotrimeric G-protein and the convergence point for signaling of multiple Gq-coupled neurohormonal receptors. To identify naturally occurring mutations that could modify GNAQ transcription, we examined genomic DNA isolated from 355 normal sub...

journal_title：Human molecular genetics

authors： Liggett SB,Kelly RJ,Parekh RR,Matkovich SJ,Benner BJ,Hahn HS,Syed FM,Galvez AS,Case KL,McGuire N,Odley AM,Sparks L,Kardia SL,Dorn GW 2nd

更新日期：2007-11-15 00:00:00

abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

journal_title：Human molecular genetics

authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

更新日期：2011-08-15 00:00:00

abstract：:The striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin, a giant molecule that contains several immunoglobulin (Ig...

journal_title：Human molecular genetics

authors： Salmikangas P,Mykkänen OM,Grönholm M,Heiska L,Kere J,Carpén O

更新日期：1999-07-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is a common genetic disorder affecting 1 in 3500 individuals. Patients with NF1 are predisposed to debilitating skeletal manifestations, including osteopenia/osteoporosis and long bone pseudarthrosis (nonunion fracture). Hyperactivation of the Ras/mitogen-activated protein kinase (MAPK) ...

journal_title：Human molecular genetics

authors： Sharma R,Wu X,Rhodes SD,Chen S,He Y,Yuan J,Li J,Yang X,Li X,Jiang L,Kim ET,Stevenson DA,Viskochil D,Xu M,Yang FC

更新日期：2013-12-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000), a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS), has variable clinical phenotypes. To date we have identified 65 missense mutations in the GALNS gene from MPS IVA patients, but the correlation between genotype a...

journal_title：Human molecular genetics

authors： Sukegawa K,Nakamura H,Kato Z,Tomatsu S,Montaño AM,Fukao T,Toietta G,Tortora P,Orii T,Kondo N

更新日期：2000-05-22 00:00:00

abstract：:OPA1 mutations are the major cause of dominant optic atrophy (DOA) and the syndromic form DOA plus, pathologies for which there is no established cure. We used a 'drug repurposing' approach to identify FDA-approved molecules able to rescue the mitochondrial dysfunctions induced by OPA1 mutations. We screened two diffe...

journal_title：Human molecular genetics

authors： Aleo SJ,Del Dotto V,Fogazza M,Maresca A,Lodi T,Goffrini P,Ghelli A,Rugolo M,Carelli V,Baruffini E,Zanna C

更新日期：2021-01-21 00:00:00

abstract：:Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness and possible respiratory distress, followed later in life by symptoms of mild to moderate myasthenia. Th...

journal_title：Human molecular genetics

authors： Christodoulou K,Tsingis M,Deymeer F,Serdaroglu P,Ozdemir C,Al-Shehab A,Bairactaris C,Mavromatis I,Mylonas I,Evoli A,Kyriallis K,Middleton LT

更新日期：1997-04-01 00:00:00

abstract：:Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated wit...

journal_title：Human molecular genetics

authors： Bradfield JP,Vogelezang S,Felix JF,Chesi A,Helgeland Ø,Horikoshi M,Karhunen V,Lowry E,Cousminer DL,Ahluwalia TS,Thiering E,Boh ET,Zafarmand MH,Vilor-Tejedor N,Wang CA,Joro R,Chen Z,Gauderman WJ,Pitkänen N,Parra EJ,

更新日期：2019-10-01 00:00:00

abstract：:The molecular genetic basis that leads to Lewy Body (LB) pathology in 15-20% of Alzheimer disease cases (LBV/AD) was largely unknown. Alpha-synuclein (SNCA) and Leucine-rich repeat kinase2 (LRRK2) have been implicated in the pathogenesis of Parkinson's disease (PD), the prototype of LB spectrum disorders. We tested th...

journal_title：Human molecular genetics

authors： Linnertz C,Lutz MW,Ervin JF,Allen J,Miller NR,Welsh-Bohmer KA,Roses AD,Chiba-Falek O

更新日期：2014-09-15 00:00:00

abstract：:Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...

journal_title：Human molecular genetics

authors： Sassone J,Taiana M,Lombardi R,Porretta-Serapiglia C,Freschi M,Bonanno S,Marcuzzo S,Caravello F,Bendotti C,Lauria G

更新日期：2016-04-15 00:00:00

abstract：:The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the ide...

journal_title：Human molecular genetics

authors： Urao N,Mirza RE,Corbiere TF,Hollander Z,Borchers CH,Koh TJ

更新日期：2017-12-15 00:00:00

abstract：:X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to use as a model in the testing of ...

journal_title：Human molecular genetics

authors： Pierson CR,Dulin-Smith AN,Durban AN,Marshall ML,Marshall JT,Snyder AD,Naiyer N,Gladman JT,Chandler DS,Lawlor MW,Buj-Bello A,Dowling JJ,Beggs AH

更新日期：2012-02-15 00:00:00

abstract：:We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...

journal_title：Human molecular genetics

authors： Holt IJ,Dunbar DR,Jacobs HT

更新日期：1997-08-01 00:00:00

abstract：:Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...

journal_title：Human molecular genetics

authors： Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

更新日期：2014-05-01 00:00:00