Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

abstract：:A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine ...

journal_title：Human molecular genetics

authors： Halford S,Wadey R,Roberts C,Daw SC,Whiting JA,O'Donnell H,Dunham I,Bentley D,Lindsay E,Baldini A

更新日期：1993-12-01 00:00:00

abstract：:The clinical manifestations of inherited neurodegenerative diseases are often delayed for periods from years to decades. This observation has led to the idea that, in these disorders, neurons die from cumulative damage. A critical prediction of the cumulative damage hypothesis is that the probability of neuronal death...

journal_title：Human molecular genetics

authors： Clarke G,Lumsden CJ,McInnes RR

更新日期：2001-10-01 00:00:00

abstract：:We have studied the functional effects of nonsense mitochondrial DNA (mtDNA) mutations in the COXI and ND5 genes in a colorectal tumor cell line. Surprisingly, these cells had an efficient oxidative phosphorylation (OXPHOS); however, when mitochondria from these cells were transferred to an osteosarcoma nuclear backgr...

journal_title：Human molecular genetics

authors： Srivastava S,Barrett JN,Moraes CT

更新日期：2007-04-15 00:00:00

abstract：:Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition. Over 90% of NBS patients are homozygous for the 657Delta5 mutation and are of Slavic origin; however, 1...

journal_title：Human molecular genetics

authors： Varon R,Dutrannoy V,Weikert G,Tanzarella C,Antoccia A,Stöckl L,Spadoni E,Krüger LA,di Masi A,Sperling K,Digweed M,Maraschio P

更新日期：2006-03-01 00:00:00

abstract：:The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kin...

journal_title：Human molecular genetics

authors： Mahadevan MS,Amemiya C,Jansen G,Sabourin L,Baird S,Neville CE,Wormskamp N,Segers B,Batzer M,Lamerdin J

更新日期：1993-03-01 00:00:00

abstract：:Induced pluripotent stem cell (iPSC)-derived cortical neurons potentially present a powerful new model to understand corticogenesis and neurological disease. Previous work has established that differentiation protocols can produce cortical neurons, but little has been done to characterize these at cellular resolution....

journal_title：Human molecular genetics

authors： Handel AE,Chintawar S,Lalic T,Whiteley E,Vowles J,Giustacchini A,Argoud K,Sopp P,Nakanishi M,Bowden R,Cowley S,Newey S,Akerman C,Ponting CP,Cader MZ

更新日期：2016-03-01 00:00:00

abstract：:We present the analysis of a prospective multicentre study to investigate genetic effects on the prognosis of newly treated epilepsy. Patients with a new clinical diagnosis of epilepsy requiring medication were recruited and followed up prospectively. The clinical outcome was defined as freedom from seizures for a min...

journal_title：Human molecular genetics

authors： Speed D,Hoggart C,Petrovski S,Tachmazidou I,Coffey A,Jorgensen A,Eleftherohorinou H,De Iorio M,Todaro M,De T,Smith D,Smith PE,Jackson M,Cooper P,Kellett M,Howell S,Newton M,Yerra R,Tan M,French C,Reuber M,Sills

更新日期：2014-01-01 00:00:00

abstract：:Genome editing to correct a defective β-globin gene or induce fetal globin (HbF) for patients with beta-hemoglobinopathies has the potential to be a curative strategy available to all. HbF reactivation has long been an area of intense interest given the HbF inhibition of sickle hemoglobin (HbS) polymerization. Patient...

journal_title：Human molecular genetics

authors： Demirci S,Leonard A,Tisdale JF

更新日期：2020-09-30 00:00:00

abstract：:An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part...

journal_title：Human molecular genetics

authors： Friederich MW,Erdogan AJ,Coughlin CR 2nd,Elos MT,Jiang H,O'Rourke CP,Lovell MA,Wartchow E,Gowan K,Chatfield KC,Chick WS,Spector EB,Van Hove JLK,Riemer J

更新日期：2017-02-15 00:00:00

abstract：:Familial exudative vitreoretinopathy (FEVR) belongs to a group of genetically and clinically heterogeneous disorders in retinal vascular development. To date, in approximately 50% of patients with FEVR, pathogenic mutations have been detected in FZD4, LRP5, TSPAN12, NDP and ZNF408. In this study, we identified two het...

journal_title：Human molecular genetics

authors： Wu JH,Liu JH,Ko YC,Wang CT,Chung YC,Chu KC,Liu TT,Chao HM,Jiang YJ,Chen SJ,Chung MY

更新日期：2016-04-15 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in these diseases, a pathological hallmark, is associated with defects in protein hom...

journal_title：Human molecular genetics

authors： Bott LC,Badders NM,Chen KL,Harmison GG,Bautista E,Shih CC,Katsuno M,Sobue G,Taylor JP,Dantuma NP,Fischbeck KH,Rinaldi C

更新日期：2016-05-15 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：:Insulin resistance (IR) is a key determinant of type 2 diabetes (T2D) and other metabolic disorders. This genome-wide association study (GWAS) was designed to shed light on the genetic basis of fasting insulin (FI) and IR in 927 non-diabetic African Americans. 5 396 838 single-nucleotide polymorphisms (SNPs) were test...

journal_title：Human molecular genetics

authors： Chen G,Bentley A,Adeyemo A,Shriner D,Zhou J,Doumatey A,Huang H,Ramos E,Erdos M,Gerry N,Herbert A,Christman M,Rotimi C

更新日期：2012-10-15 00:00:00

abstract：:A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-...

journal_title：Human molecular genetics

authors： de la Hoya M,Soukarieh O,López-Perolio I,Vega A,Walker LC,van Ierland Y,Baralle D,Santamariña M,Lattimore V,Wijnen J,Whiley P,Blanco A,Raponi M,Hauke J,Wappenschmidt B,Becker A,Hansen TV,Behar R,Investigators K,Nied

更新日期：2016-06-01 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：:Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA repair pathway. To understand the role of this ...

journal_title：Human molecular genetics

authors： Andrade LN,Nathanson JL,Yeo GW,Menck CF,Muotri AR

更新日期：2012-09-01 00:00:00

abstract：:We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synteny and conserved gene order, which may contain all of the elements r...

journal_title：Human molecular genetics

authors： Flint J,Tufarelli C,Peden J,Clark K,Daniels RJ,Hardison R,Miller W,Philipsen S,Tan-Un KC,McMorrow T,Frampton J,Alter BP,Frischauf AM,Higgs DR

更新日期：2001-02-15 00:00:00

abstract：:Mutations in S-phase cyclin A-associated protein in the endoplasmic reticulum (SCAPER) cause a recessively inherited multisystemic disorder whose main features are retinal degeneration and intellectual disability. SCAPER, originally identified as a cell cycle regulator, was also suggested to be a ciliary protein. Beca...

journal_title：Human molecular genetics

authors： Tatour Y,Bar-Joseph H,Shalgi R,Ben-Yosef T

更新日期：2020-08-03 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a genetic disorder characterized by loss of motor neurons in the spinal cord leading to muscle atrophy and death. Although motor neurons (MNs) are the most obviously affected cells in SMA, recent evidence suggest dysfunction in multiple cell types. Astrocytes are a crucial component of...

journal_title：Human molecular genetics

authors： Patitucci TN,Ebert AD

更新日期：2016-02-01 00:00:00

abstract：:The severe reduction in mRNA and protein levels of the mitochondrial protein frataxin, encoded by the X25 gene, causes Friedreich ataxia (FRDA), the most common form of recessive hereditary ataxia. Increasing evidence underlines the pathogenetic role of oxidative stress in this disease. We generated an in vitro cellul...

journal_title：Human molecular genetics

authors： Pianese L,Busino L,De Biase I,De Cristofaro T,Lo Casale MS,Giuliano P,Monticelli A,Turano M,Criscuolo C,Filla A,Varrone S,Cocozza S

更新日期：2002-11-01 00:00:00

abstract：:Fanconi anaemia (FA) is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, multiple congenital abnormalities, and an increased risk of cancer. FA cells are characterized by chromosomal instability and hypersensitivity to DNA interstrand crosslinking agents. At least eight complem...

journal_title：Human molecular genetics

authors： Hussain S,Witt E,Huber PA,Medhurst AL,Ashworth A,Mathew CG

更新日期：2003-10-01 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：: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：:In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequ...

journal_title：Human molecular genetics

authors： Nakao M,Sutcliffe JS,Durtschi B,Mutirangura A,Ledbetter DH,Beaudet AL

更新日期：1994-02-01 00:00:00

abstract：:DNA replication is a critical step for cells because of the propensity of replication forks to stall, as a consequence either of endogenous DNA damage or of the propensity of repeated sequences to form tertiary structures, which can impede fork progression. Moreover, as a result of stalled replication fork processing,...

journal_title：Human molecular genetics

authors： Franchitto A,Pichierri P

更新日期：2002-10-01 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 00:00:00

abstract：:Mutations in subunits or regulators of cohesin cause a spectrum of disorders in humans known as the 'cohesinopathies'. Cohesinopathies, including the best known example Cornelia de Lange syndrome (CdLS), are characterized by broad spectrum, multifactorial developmental anomalies. Heart defects occur at high frequency ...

journal_title：Human molecular genetics

authors： Schuster K,Leeke B,Meier M,Wang Y,Newman T,Burgess S,Horsfield JA

更新日期：2015-12-15 00:00:00

abstract：:ATRX is a chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. It also influences the expression level of specific genes; however, deposition of H3.3 at transcribed genes is currently thought to occur independently of ATRX. We focused on a se...

journal_title：Human molecular genetics

authors： Levy MA,Kernohan KD,Jiang Y,Bérubé NG

更新日期：2015-04-01 00:00:00

abstract：:Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associated with cardiomyopathy, is caused by severely reduced frataxin, a mitochondrial protein involved in Fe-S cluster assembly. We have recently generated mouse models that reproduce important progressive pathological and biochemical features of the...

journal_title：Human molecular genetics

authors： Seznec H,Simon D,Monassier L,Criqui-Filipe P,Gansmuller A,Rustin P,Koenig M,Puccio H

更新日期：2004-05-15 00:00:00

abstract：:There has been substantial progress in psychiatric genetics in recent years, through collaborative efforts to build large samples sizes for case/control analyses for a number of psychiatric disorders. The identification of replicated trait-associated genomic loci represents a large stride forward in a field where litt...

journal_title：Human molecular genetics

authors： Hodgson K,McGuffin P,Lewis CM

更新日期：2017-10-01 00:00:00