Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.

abstract：:Insulin-like growth factor II (IGF-II) is a mitogen for many cell types and an important modulator of muscle growth and differentiation. IGF-II gene is prevalently expressed during prenatal development and its gene activity is regulated by genomic imprinting, in that the allele inherited from the father is active and ...

journal_title：Human molecular genetics

authors： Pedone PV,Tirabosco R,Cavazzana AO,Ungaro P,Basso G,Luksch R,Carli M,Bruni CB,Frunzio R,Riccio A

更新日期：1994-07-01 00:00:00

abstract：:Pallister-Hall syndrome (PHS) is a rare disorder caused by mutations in GLI3 that produce a transcriptional repressor (GLI3R). Individuals with PHS present with a variably penetrant variety of urogenital system malformations, including renal aplasia or hypoplasia, hydroureter, hydronephrosis or a common urogenital sin...

journal_title：Human molecular genetics

authors： Blake J,Hu D,Cain JE,Rosenblum ND

更新日期：2016-02-01 00:00:00

abstract：:Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone diseas...

journal_title：Human molecular genetics

authors： Cao F,Lu L,Abrams SA,Hawthorne KM,Tam A,Jin W,Dawson B,Shypailo R,Liu H,Lee B,Nagamani SCS,Wang LL

更新日期：2017-08-15 00:00:00

abstract：:Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric Kif17 motor in cilia is poorly understood, whereas Kif7 is known to play an importan...

journal_title：Human molecular genetics

authors： Schwarz N,Lane A,Jovanovic K,Parfitt DA,Aguila M,Thompson CL,da Cruz L,Coffey PJ,Chapple JP,Hardcastle AJ,Cheetham ME

更新日期：2017-07-01 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：:Angelman syndrome (AS) is a neurodevelopmental disorder caused due to deletions or loss-of-function mutations in maternally inherited UBE3A. Ube3a functions as an ubiquitin ligase as well as a transcriptional coactivator of steroid hormone receptors. However, the mechanisms by which maternal Ube3a deficiency gives ris...

journal_title：Human molecular genetics

authors： Godavarthi SK,Dey P,Maheshwari M,Jana NR

更新日期：2012-04-15 00:00:00

abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

journal_title：Human molecular genetics

authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

更新日期：2006-07-01 00:00:00

abstract：:Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation po...

journal_title：Human molecular genetics

authors： de Villiers JN,Hillermann R,Loubser L,Kotze MJ

更新日期：1999-08-01 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：:Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called Lafora bodies. Lafora bodies resemble glycogen with reduced branchi...

journal_title：Human molecular genetics

authors： Fernández-Sánchez ME,Criado-García O,Heath KE,García-Fojeda B,Medraño-Fernández I,Gomez-Garre P,Sanz P,Serratosa JM,Rodríguez de Córdoba S

更新日期：2003-12-01 00:00:00

abstract：:Successful human development is dependent upon a cascade of events following fertilization. Unfortunately, knowledge of these critical events in humans is remarkably incomplete. Although hundreds of thousands of human embryos are cultured yearly at infertility centers worldwide, the vast majority fail to develop in cu...

journal_title：Human molecular genetics

authors： Dobson AT,Raja R,Abeyta MJ,Taylor T,Shen S,Haqq C,Pera RA

更新日期：2004-07-15 00:00:00

abstract：:Cilia are evolutionarily conserved organelles endowed with essential physiological and developmental functions. In humans, disruption of cilia motility or signaling leads to complex pleiotropic genetic disorders called ciliopathies. Cilia motility requires the assembly of multi-subunit motile components such as dynein...

journal_title：Human molecular genetics

authors： Jerber J,Baas D,Soulavie F,Chhin B,Cortier E,Vesque C,Thomas J,Durand B

更新日期：2014-02-01 00:00:00

abstract：:The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene...

journal_title：Human molecular genetics

authors： Wang J,Pansky A,Venuti JM,Yaffe D,Nudel U

更新日期：1998-04-01 00:00:00

abstract：:Genetic and environmental influences are thought to interact in their contribution to the etiology of major neuropsychiatric disorders. One of the best replicated findings obtained in genome-wide association studies are genetic variants in the CACNA1C gene. Here, we used our constitutive heterozygous Cacna1c rat model...

journal_title：Human molecular genetics

authors： Braun MD,Kisko TM,Witt SH,Rietschel M,Schwarting RKW,Wöhr M

更新日期：2019-12-15 00:00:00

abstract：:Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where ca...

journal_title：Human molecular genetics

authors： Benet-Pagès A,Orlik P,Strom TM,Lorenz-Depiereux B

更新日期：2005-02-01 00:00:00

abstract：:Primary aldosteronism (PA, autonomous aldosterone production from the adrenal cortex) causes the most common form of secondary arterial hypertension (HT), which is also the most common curable form of HT. Recent studies have highlighted an important role of mutations in genes encoding potassium channels in the pathoge...

journal_title：Human molecular genetics

authors： El Wakil A,Bandulik S,Guy N,Bendahhou S,Zennaro MC,Niehrs C,Mari B,Warth R,Barhanin J,Lalli E

更新日期：2012-11-15 00:00:00

abstract：:An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We us...

journal_title：Human molecular genetics

authors： Georgieva L,Rees E,Moran JL,Chambert KD,Milanova V,Craddock N,Purcell S,Sklar P,McCarroll S,Holmans P,O'Donovan MC,Owen MJ,Kirov G

更新日期：2014-12-15 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dystrophin. Several downstream consequences of dystrophin deficiency are triggers of endoplasmic reticulum (ER) stress, including loss of calcium homeostasis, hypoxia and oxidative stress. During ER stress, misfolded prote...

journal_title：Human molecular genetics

authors： Moorwood C,Barton ER

更新日期：2014-10-15 00:00:00

abstract：:Development of gene therapy for the muscular dystrophies represents a daunting challenge requiring significant advances in our knowledge of the defective genes, muscle promoters, viral vectors, immune system surveillance and methods for systemic delivery of vectors. However, tremendous progress has been made in develo...

journal_title：Human molecular genetics

authors： Chamberlain JS

更新日期：2002-10-01 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：:Hand-Foot-Genital syndrome is a rare condition caused by mutations in the HOXA13 gene and characterized by limb malformations and urogenital defects. While the role of Hoxa13 in limb development has been extensively studied, its function during the development of the urogenital system remains elusive mostly due to the...

journal_title：Human molecular genetics

authors： Roux M,Bouchard M,Kmita M

更新日期：2019-05-15 00:00:00

abstract：:Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, f...

journal_title：Human molecular genetics

authors： Hammarsund M,Lerner M,Zhu C,Merup M,Jansson M,Gahrton G,Kluin-Nelemans H,Einhorn S,Grandér D,Sangfelt O,Corcoran M

更新日期：2004-12-01 00:00:00

abstract：:Proteins with iron-sulfur (Fe-S) clusters participate in multiple metabolic pathways throughout the cell. The mitochondrial ABC half-transporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functional ortholog of yeast Atm1p and is predicted to export a mitochondrially derived m...

journal_title：Human molecular genetics

authors： Pondarré C,Antiochos BB,Campagna DR,Clarke SL,Greer EL,Deck KM,McDonald A,Han AP,Medlock A,Kutok JL,Anderson SA,Eisenstein RS,Fleming MD

更新日期：2006-03-15 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：:Hypertension is a complex disease that affects a large proportion of adult population. Although approximately half of the inter-individual variance in blood pressure (BP) level is heritable, identification of genes responsible for its regulation has remained challenging. Genome-wide association study (GWAS) is a novel...

journal_title：Human molecular genetics

authors： Org E,Eyheramendy S,Juhanson P,Gieger C,Lichtner P,Klopp N,Veldre G,Döring A,Viigimaa M,Sõber S,Tomberg K,Eckstein G,KORA.,Kelgo P,Rebane T,Shaw-Hawkins S,Howard P,Onipinla A,Dobson RJ,Newhouse SJ,Brown M,Domini

更新日期：2009-06-15 00:00:00

abstract：:Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. Mice with a deletion of Tgfbr2 in cranial neural crest cells (Tgfbr2(fl/fl);Wnt1-Cre mice) develop cleft palate as the result of abnormal TGFβ signal...

journal_title：Human molecular genetics

authors： Iwata J,Suzuki A,Pelikan RC,Ho TV,Sanchez-Lara PA,Chai Y

更新日期：2014-01-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Previous data have shown that MECP2 RNA is present in all mouse and human tissues tested, but the timing of expression and regional distribution have not been explored. We investigated the spatial...

journal_title：Human molecular genetics

authors： Shahbazian MD,Antalffy B,Armstrong DL,Zoghbi HY

更新日期：2002-01-15 00:00:00

abstract：:Despite extensive progress in Huntington's disease (HD) research, very little is known about the association of epigenetic variation and HD pathogenesis in human brain tissues. Moreover, its contribution to the tissue-specific transcriptional regulation of the huntingtin gene (HTT), in which HTT expression levels are ...

journal_title：Human molecular genetics

authors： De Souza RA,Islam SA,McEwen LM,Mathelier A,Hill A,Mah SM,Wasserman WW,Kobor MS,Leavitt BR

更新日期：2016-05-15 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：:Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms. To investigate the prevalence of LKB1 germline mutations in PJS more generally, we studied samples from 33 unrelated PJS patients including eig...

journal_title：Human molecular genetics

authors： Ylikorkala A,Avizienyte E,Tomlinson IP,Tiainen M,Roth S,Loukola A,Hemminki A,Johansson M,Sistonen P,Markie D,Neale K,Phillips R,Zauber P,Twama T,Sampson J,Järvinen H,Mäkelä TP,Aaltonen LA

更新日期：1999-01-01 00:00:00