Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ.

abstract：:'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to fiv...

journal_title：Human molecular genetics

authors： Hentati A,Pericak-Vance MA,Hung WY,Belal S,Laing N,Boustany RM,Hentati F,Ben Hamida M,Siddique T

更新日期：1994-08-01 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：: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：:The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted dise...

journal_title：Human molecular genetics

authors： Pólvora-Brandão D,Joaquim M,Godinho I,Aprile D,Álvaro AR,Onofre I,Raposo AC,Pereira de Almeida L,Duarte ST,da Rocha ST

更新日期：2018-12-01 00:00:00

abstract：:A main strategy for lowering plasma low-density lipoprotein (LDL) cholesterol levels is to increase the number of cell-surface LDL receptors (LDLRs). This can be achieved by increasing the synthesis or preventing the degradation of the LDLR. One mechanism by which an LDLR becomes non-functional is enzymatic cleavage w...

journal_title：Human molecular genetics

authors： Strøm TB,Bjune K,Costa LTD,Leren TP

更新日期：2019-11-15 00:00:00

abstract：:Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX p...

journal_title：Human molecular genetics

authors： Nakae J,Tajima T,Sugawara T,Arakane F,Hanaki K,Hotsubo T,Igarashi N,Igarashi Y,Ishii T,Koda N,Kondo T,Kohno H,Nakagawa Y,Tachibana K,Takeshima Y,Tsubouchi K,Strauss JF 3rd,Fujieda K

更新日期：1997-04-01 00:00:00

abstract：:alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in Alzheimer's disease (AD). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between Alzheimer's disease and a com...

journal_title：Human molecular genetics

authors： Liao A,Nitsch RM,Greenberg SM,Finckh U,Blacker D,Albert M,Rebeck GW,Gomez-Isla T,Clatworthy A,Binetti G,Hock C,Mueller-Thomsen T,Mann U,Zuchowski K,Beisiegel U,Staehelin H,Growdon JH,Tanzi RE,Hyman BT

更新日期：1998-11-01 00:00:00

abstract：:Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously li...

journal_title：Human molecular genetics

authors： Knight MA,Hernandez D,Diede SJ,Dauwerse HG,Rafferty I,van de Leemput J,Forrest SM,Gardner RJ,Storey E,van Ommen GJ,Tapscott SJ,Fischbeck KH,Singleton AB

更新日期：2008-12-15 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：:Despite the immense significance retrotransposons have had for genome evolution much about their biology is unknown, including the processes of forming their ribonucleoprotein (RNP) particles and transporting them about the cell. Suppression of retrotransposon expression, together with the presence of retrotransposon ...

journal_title：Human molecular genetics

authors： Goodier JL,Mandal PK,Zhang L,Kazazian HH Jr

更新日期：2010-05-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP) are two neurodegenerative disorders characterized by the accumulation of TDP-43. TDP-43 is proteolitically cleaved to generate two major C-terminal fragments of 35 and 25 kDa. The latter, known as TDP-25, is a consistent feature of FT...

journal_title：Human molecular genetics

authors： Caccamo A,Shaw DM,Guarino F,Messina A,Walker AW,Oddo S

更新日期：2015-08-15 00:00:00

abstract：:The huntingtin interacting protein (HIP1) is enriched in membrane-containing cell fractions and has been implicated in vesicle trafficking. It is a multidomain protein containing an N-terminal ENTH domain, a central coiled-coil forming region and a C-terminal actin-binding domain. In the present study we have identifi...

journal_title：Human molecular genetics

authors： Waelter S,Scherzinger E,Hasenbank R,Nordhoff E,Lurz R,Goehler H,Gauss C,Sathasivam K,Bates GP,Lehrach H,Wanker EE

更新日期：2001-08-15 00:00:00

abstract：:Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. ...

journal_title：Human molecular genetics

authors： Yang N,Wu N,Zhang L,Zhao Y,Liu J,Liang X,Ren X,Li W,Chen W,Dong S,Zhao S,Lin J,Xiang H,Xue H,Chen L,Sun H,Zhang J,Shi J,Zhang S,Lu D,Wu X,Jin L,Ding J,Qiu G,Wu Z,Lupski JR,Zhang F

更新日期：2019-02-15 00:00:00

abstract：:A vast portion of intellectual disability and autism spectrum disorders is genetically caused by mutations in chromatin modulators. These proteins play key roles in development and are also highly expressed in the adult brain. Specifically, the pivotal role of chromatin regulation in transcription has placed enhancers...

journal_title：Human molecular genetics

authors： Vitriolo A,Gabriele M,Testa G

更新日期：2019-11-21 00:00:00

abstract：:Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration, and admixture. Ethnically diverse African populations harbor extremely high levels of genetic and phenotypic diversity, and skin pigmentation varies widely across Africa. Recent geno...

journal_title：Human molecular genetics

authors： Feng Y,McQuillan MA,Tishkoff SA

更新日期：2021-01-12 00:00:00

abstract：:Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia. They join the most common cholesterol biosyn...

journal_title：Human molecular genetics

authors： Herman GE

更新日期：2003-04-01 00:00:00

abstract：:Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...

journal_title：Human molecular genetics

authors： Casademont J,Barrientos A,Cardellach F,Rötig A,Grau JM,Montoya J,Beltrán B,Cervantes F,Rozman C,Estivill X

更新日期：1994-11-01 00:00:00

abstract：:Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an established disease g...

journal_title：Human molecular genetics

authors： Elsayed SM,Phillips JB,Heller R,Thoenes M,Elsobky E,Nürnberg G,Nürnberg P,Seland S,Ebermann I,Altmüller J,Thiele H,Toliat M,Körber F,Hu XJ,Wu YD,Zaki MS,Abdel-Salam G,Gleeson J,Boltshauser E,Westerfield M,Bolz HJ

更新日期：2015-05-01 00:00:00

abstract：:Mutation in a growing spectrum of genes is known to either cause or contribute to primary or secondary microcephaly. In primary microcephaly the genetic determinants frequently involve mutations that contribute to or modulate the microtubule cytoskeleton by causing perturbations of neuronal proliferation and migration...

journal_title：Human molecular genetics

authors： Edvardson S,Tian G,Cullen H,Vanyai H,Ngo L,Bhat S,Aran A,Daana M,Da'amseh N,Abu-Libdeh B,Cowan NJ,Heng JI,Elpeleg O

更新日期：2016-11-01 00:00:00

abstract：:FcgRIIa and FcgRIIIa are potent modulators of the immune system which bind (auto)antibodies and activate immune cells. The FcgRIIa*A519G and FcgRIIIa*A559C functional variants have been associated with several immune-related diseases. We studied FcgRIIa*A519G and FcgRIIIa*A559C SNPs in type 1 diabetes (T1D), celiac di...

journal_title：Human molecular genetics

authors： Alizadeh BZ,Valdigem G,Coenen MJ,Zhernakova A,Franke B,Monsuur A,van Riel PL,Barrera P,Radstake TR,Roep BO,Wijmenga C,Koeleman BP

更新日期：2007-11-01 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：:Elevated blood pressure (BP) is a major global risk factor for cardiovascular disease. Genome-wide association studies have identified several genetic variants at the NPR3 locus associated with BP, but the functional impact of these variants remains to be determined. Here we confirmed, by a genome-wide association stu...

journal_title：Human molecular genetics

authors： Ren M,Ng FL,Warren HR,Witkowska K,Baron M,Jia Z,Cabrera C,Zhang R,Mifsud B,Munroe PB,Xiao Q,Townsend-Nicholson A,Hobbs AJ,Ye S,Caulfield MJ

更新日期：2018-01-01 00:00:00

abstract：:Advances in information technology (IT) hardware in the last decade have led to the advent of small connected devices broadly referred to as the Internet of Things (IoT). The IoT and its subcategory of wearable devices (wearables) both have the potential to greatly impact biomedical research. This focused review cover...

journal_title：Human molecular genetics

authors： Talboom JS,Huentelman MJ

更新日期：2018-05-01 00:00:00

abstract：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Although the mutant protein is widely expressed, the earliest and most striking neuropathological changes are observed in the striatum. Here we show dramatic mutation length increases (gai...

journal_title：Human molecular genetics

authors： Kennedy L,Evans E,Chen CM,Craven L,Detloff PJ,Ennis M,Shelbourne PF

更新日期：2003-12-15 00:00:00

abstract：:Emerging evidence implicates epigenetic mechanisms in the pathogenesis of rheumatoid arthritis (RA). In this study, we have investigated the role of histone deacetylase (HDAC) enzymes in RA synovial fibroblasts (RASFs), a key cellular mediator of cartilage and bone destruction and determined effects of HDAC1 inhibitio...

journal_title：Human molecular genetics

authors： Hawtree S,Muthana M,Wilkinson JM,Akil M,Wilson AG

更新日期：2015-10-01 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：:Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring...

journal_title：Human molecular genetics

authors： Raimondo A,Chakera AJ,Thomsen SK,Colclough K,Barrett A,De Franco E,Chatelas A,Demirbilek H,Akcay T,Alawneh H,International NDM Consortium.,Flanagan SE,Van De Bunt M,Hattersley AT,Gloyn AL,Ellard S,International NDM Consor

更新日期：2014-12-15 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：:Apoptosis is a morphologically distinct form of cell death involved in many physiological and pathological processes. The regulation of Fas/Apo-1 involved in membrane-mediated apoptosis has also been known to play crucial roles in many systems. More and more naturally occurring antisense RNAs are now known to regulate...

journal_title：Human molecular genetics

authors： Yan MD,Hong CC,Lai GM,Cheng AL,Lin YW,Chuang SE

更新日期：2005-06-01 00:00:00

abstract：:Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death. Pathology reveals neurodegeneration with neurofibrillary tangle formation and Lafora bodies (LBs). LBs are deposits ...

journal_title：Human molecular genetics

authors： Lohi H,Ianzano L,Zhao XC,Chan EM,Turnbull J,Scherer SW,Ackerley CA,Minassian BA

更新日期：2005-09-15 00:00:00