Haemochromatosis: an inherited metal and toxicity syndrome.

Abstract:

:A newly-identified major histocompatibility Class I-like gene, HFE (originally HLA-H) located approximately 3.5 Mb telomeric to the Class I cluster on chromosome 6p 21.3 harbours mutations in haemochromatosis. Two of these, Cys282Tyr (C282Y) and His63Asp (H63D, a minor determinant) have diagnostic utility as approximately 90% of adults are homozygous or compound heterozygotes for these alleles. The pathophysiological role of HFE is unclear: it is expressed as a surface molecule on many cells and the C282Y mutation disrupts interactions with beta 2-microglobulin, thus preventing surface expression. Lately, there has been experimental evidence that HFE protein interacts with the transferrin-receptor, affecting receptor turnover or its affinity for ligand.

journal_name

Curr Opin Genet Dev

authors

Cox TM,Kelly AL

doi

10.1016/s0959-437x(98)80081-6

subject

Has Abstract

pub_date

1998-06-01 00:00:00

pages

274-81

issue

3

eissn

0959-437X

issn

1879-0380

pii

S0959-437X(98)80081-6

journal_volume

8

pub_type

杂志文章,评审
  • RNA-binding proteins as regulators of gene expression.

    abstract::A plethora of post-transcriptional mechanisms are involved in essential steps in the pathway of genetic information expression in eukaryotes. These processes are specified by cis-acting signals on RNAs and are mediated by specific trans-acting factors, including RNA-binding proteins and small complementary RNAs. Recen...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(97)80148-7

    authors: Siomi H,Dreyfuss G

    更新日期:1997-06-01 00:00:00

  • Colonial ascidians as model organisms for the study of germ cells, fertility, whole body regeneration, vascular biology and aging.

    abstract::Colonial ascidians are marine invertebrate chordates that are the closest invertebrate relative to the vertebrates. Colonies of Botryllus schlosseri undergo a continuous asexual reproduction process that involves the regeneration of entire new bodies, which include all somatic and germline tissues. This adult regenera...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2016.06.001

    authors: Kassmer SH,Rodriguez D,De Tomaso AW

    更新日期:2016-08-01 00:00:00

  • Network news: prime time for systems biology of the plant circadian clock.

    abstract::Whole-transcriptome analyses have established that the plant circadian clock regulates virtually every plant biological process and most prominently hormonal and stress response pathways. Systems biology efforts have successfully modeled the plant central clock machinery and an iterative process of model refinement an...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2010.08.010

    authors: McClung CR,Gutiérrez RA

    更新日期:2010-12-01 00:00:00

  • Development of the inner ear.

    abstract::The vertebrate inner ear is a sensory organ of exquisite design and sensitivity. It responds to sound, gravity and movement, serving both auditory (hearing) and vestibular (balance) functions. Almost all cell types of the inner ear, including sensory hair cells, sensory neurons, secretory cells and supporting cells, d...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2015.02.006

    authors: Whitfield TT

    更新日期:2015-06-01 00:00:00

  • TGF-beta signaling: positive and negative effects on tumorigenesis.

    abstract::TGF-beta binding to the cell surface triggers activation of multiple signal transduction pathways that are connected in intricate ways with each other, and with other response networks involved in sensing cellular information input. Recent data indicate that changes in signal intensity and connectivity of these pathwa...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(01)00259-3

    authors: Wakefield LM,Roberts AB

    更新日期:2002-02-01 00:00:00

  • X-linked mental retardation: many genes for a complex disorder.

    abstract::X-linked mental retardation (XLMR) is a common cause of moderate to severe intellectual disability in males. XLMR is very heterogeneous, and about two-thirds of patients have clinically indistinguishable non-syndromic (NS-XLMR) forms, which has greatly hampered their molecular elucidation. A few years ago, internation...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2006.04.017

    authors: Ropers HH

    更新日期:2006-06-01 00:00:00

  • Coordinate signaling by integrins and receptor tyrosine kinases in the regulation of G1 phase cell-cycle progression.

    abstract::Cell proliferation is dependent upon the activation of receptor tyrosine kinases and integrins by soluble growth factors and extracellular matrix proteins, respectively. It is now apparent that concerted, rather than individual, signaling by these receptors is the critical feature responsible for cell-cycle progressio...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(00)00155-6

    authors: Assoian RK,Schwartz MA

    更新日期:2001-02-01 00:00:00

  • Vertebrate limb development.

    abstract::The recent identification of Wnt-7a as a signalling molecule in dorsal/ventral patterning means that we now have a known signal for control of each of the three limb axes. Fibroblast growth factors can allow proximal/distal patterning and Sonic hedgehog gene expression signals anterior/posterior patterning. Networks o...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/0959-437x(95)90052-i

    authors: Tickle C

    更新日期:1995-08-01 00:00:00

  • AngiomiRs--key regulators of angiogenesis.

    abstract::The formation of new blood vessels through the process of angiogenesis is critical in vascular development and homeostasis. Aberrant angiogenesis leads to a variety of diseases, such as ischemia and cancer. Recent studies have revealed important roles for miRNAs in regulating endothelial cell (EC) function, especially...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2009.04.002

    authors: Wang S,Olson EN

    更新日期:2009-06-01 00:00:00

  • The transition from transcriptional initiation to elongation.

    abstract::Transcription is the first step in gene expression, and its regulation underlies multicellular development and the response to environmental changes. Most studies of transcriptional regulation have focused on the recruitment of RNA polymerase to promoters. However, recent work has shown that, for many promoters, post-...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2007.12.008

    authors: Wade JT,Struhl K

    更新日期:2008-04-01 00:00:00

  • Segregation of cell lineage in the neural crest.

    abstract::Following neurulation, neural crest cells emerge from the neural tube and undergo extensive migrations. At the onset of migration, multipotent stem cells exist within the neural crest population. Eventually, these assume one of a number of possible fates, ranging from neurons and glia of the peripheral nervous system ...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/0959-437x(93)90101-t

    authors: Bronner-Fraser M

    更新日期:1993-08-01 00:00:00

  • Perspectives on somatic reprogramming: spotlighting epigenetic regulation and cellular heterogeneity.

    abstract::Induction of pluripotency in somatic cells via ectopic expression of defined factors demonstrates the reversibility of developmental programming, thus serves as an ideal model to investigate the underlying principles of cell fate determination, which drives the differentiation of various cell types from an identical g...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2020.05.016

    authors: Chen J

    更新日期:2020-10-01 00:00:00

  • Nuclear neighborhoods and gene expression.

    abstract::The eukaryotic nucleus is a highly compartmentalized and dynamic environment. Chromosome territories are arranged nonrandomly within the nucleus and numerous studies have indicated that a gene's position in the nucleus can impact its transcriptional activity. Here, we focus on recent advances in our understanding of t...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2009.02.007

    authors: Zhao R,Bodnar MS,Spector DL

    更新日期:2009-04-01 00:00:00

  • Chemical approaches to cell reprogramming.

    abstract::Recent advances in cell reprogramming via employing different sets of factors, which allows generation of various cell types that are beyond the downstream developmental lineages from the starting cell type, provide significant opportunities to study fundamental biology and hold enormous promise in regenerative medici...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2014.09.006

    authors: Yu C,Liu K,Tang S,Ding S

    更新日期:2014-10-01 00:00:00

  • Establishment of cell type specific gene transcription during sporulation in Bacillus subtilis.

    abstract::Asymmetric cell division during the process of sporulation in the bacterium Bacillus subtilis generates dissimilar progeny that exhibit distinct programs of gene transcription. Recent work reveals a partner switching mechanism that governs the activity of the sporulation regulatory protein sigma F and that may be resp...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/0959-437x(94)90127-o

    authors: Duncan L,Alper S,Losick R

    更新日期:1994-10-01 00:00:00

  • The pluripotency transcription factor network at work in reprogramming.

    abstract::Pluripotency-associated transcription factors possess a pivotal role to maintain pluripotency in pluripotent stem cells as well as to induce pluripotency in somatic cells. They direct specific pattern of gene expression from the genome by co-operating with the genetic and epigenetic mechanisms. Recent findings reveale...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2014.08.004

    authors: Niwa H

    更新日期:2014-10-01 00:00:00

  • Viral-encoded cyclins.

    abstract::D-type cyclin homologs have been found in the genomes of herpesviruses associated with neoplasias. They appear to exploit features of G(1) cyclins but extend their properties to allow for deregulation of the cell cycle. Advances in the study of the molecular basis for these novel features as well as the potential role...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(99)00045-3

    authors: Laman H,Mann DJ,Jones NC

    更新日期:2000-02-01 00:00:00

  • Watching eyes take shape.

    abstract::Vertebrate eye formation is a multistep process requiring coordinated inductive interactions between neural and non-neural ectoderm and underlying mesendoderm. The induction and shaping of the eyes involves an elaborate cellular choreography characterized by precise changes in cell shape coupled with complex cellular ...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2015.02.004

    authors: Bazin-Lopez N,Valdivia LE,Wilson SW,Gestri G

    更新日期:2015-06-01 00:00:00

  • Basic properties of epigenetic systems: lessons from the centromere.

    abstract::Chromatin-based epigenetic inheritance cooperates with cis-acting DNA sequence information to propagate gene expression states and chromosome architecture across cell division cycles. Histone proteins and their modifications are central components of epigenetic systems but how, and to what extent, they are propagated ...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2012.11.002

    authors: Gómez-Rodríguez M,Jansen LE

    更新日期:2013-04-01 00:00:00

  • Combinatorial transcription factors.

    abstract::Combinatorial regulation of eukaryotic transcription is mediated by proteins that associate in a specific manner to form multiprotein DNA-bound complexes. Substantial progress has recently been made towards the understanding of the molecular determinants of the protein-protein and protein-DNA interactions that govern ...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(98)80010-5

    authors: Wolberger C

    更新日期:1998-10-01 00:00:00

  • Evolutionary anomalies among the aminoacyl-tRNA synthetases.

    abstract::Unexpected relationships among the various aminoacyl-tRNA synthetases continue to be uncovered. The question arises - is this mainly the result of promiscuous exchange, or is the confusion really a reflection of the differential loss of past duplications? Phylogenetic analysis may yet provide the answer. ...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(98)80030-0

    authors: Doolittle RF,Handy J

    更新日期:1998-12-01 00:00:00

  • Biology and applications of human minisatellite loci.

    abstract::Highly repetitive minisatellites' include the most variable human loci described to date. They have proved invaluable in a wide variety of genetic analyses, and despite some controversies surrounding their practical implementation, have been extensively adopted in civil and forensic casework. Molecular analysis of int...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(05)80106-6

    authors: Armour JA,Jeffreys AJ

    更新日期:1992-12-01 00:00:00

  • The dawn of non-human primate models for neurodevelopmental disorders.

    abstract::Non-human primates (NHPs) have been proposed as good models for neurodevelopmental disorders due to close similarities to humans in terms of brain structure and cognitive function. The recent development of genome editing technologies has opened new avenues to generate and investigate genetically modified NHPs as mode...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2020.05.040

    authors: Aida T,Feng G

    更新日期:2020-12-01 00:00:00

  • Mitochondrial fission/fusion and cardiomyopathy.

    abstract::Mitochondria are highly abundant in and essential to the beat-to-beat contractile performance of hearts. However, relatively few cardiac diseases have been attributed to primary mitochondrial dysfunction. The paucity of evidence for 'primary mitochondrial cardiac diseases' may be because such an entity does not exist....

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2016.03.001

    authors: Dorn G II

    更新日期:2016-06-01 00:00:00

  • Cdks and the Drosophila cell cycle.

    abstract::Cyclin-dependent kinases play essential roles in driving the cell cycle. Much progress has been made in Drosophila over the past year in identifying the specific requirements for individual cyclins in particular cell cycle events. These studies encompass many aspects of the cell cycle, from the addition of a G1 phase ...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(97)80104-9

    authors: Follette PJ,O'Farrell PH

    更新日期:1997-02-01 00:00:00

  • Unravelling the Leishmania genome.

    abstract::The past few years have been significant advances in our understanding of eukaryotic genomes. In the field of parasitology, this is best exemplified by the application of genome mapping techniques to the study of genome structure and function in the protozoan parasite, Leishmania. Although much is known about the orga...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(96)80024-4

    authors: Ivens AC,Blackwell JM

    更新日期:1996-12-01 00:00:00

  • Pattern formation during early floral development.

    abstract::Flowers are central to sexual reproduction in plants. The study of floral development proved tremendously successful in obtaining key insight into processes, such as fate determination, pattern formation, and growth regulation. Recent advances relate to the complex mechanisms underlying the crosstalk between phytohorm...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2015.01.001

    authors: Vaddepalli P,Scholz S,Schneitz K

    更新日期:2015-06-01 00:00:00

  • Cellular abnormalities of blood vessels as targets in cancer.

    abstract::Tumor blood vessels have multiple structural and functional abnormalities. They are unusually dynamic, and naturally undergo sprouting, proliferation, remodeling or regression. The vessels are irregularly shaped, tortuous, and lack the normal hierarchical arrangement of arterioles, capillaries and venules. Endothelial...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2004.12.005

    authors: Baluk P,Hashizume H,McDonald DM

    更新日期:2005-02-01 00:00:00

  • The uniqueness of the imprinting mechanism.

    abstract::An epigenetic imprinting mechanism that is based on a gamete-specific methylation imprint restricts expression of a subset of mammalian genes to one parental chromosome. Recent results suggest that imprints may act only indirectly to induce monoallelic expression of coding genes. Instead, atypical non-coding RNAs appe...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0959-437x(00)00062-9

    authors: Sleutels F,Barlow DP,Lyle R

    更新日期:2000-04-01 00:00:00

  • Investigating the principles of morphogen gradient formation: from tissues to cells.

    abstract::Morphogen gradients regulate the patterning and growth of many tissues, hence a key question is how they are established and maintained during development. Theoretical descriptions have helped to explain how gradient shape is controlled by the rates of morphogen production, spreading and degradation. These effective r...

    journal_title:Current opinion in genetics & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.gde.2012.08.004

    authors: Kicheva A,Bollenbach T,Wartlick O,Jülicher F,Gonzalez-Gaitan M

    更新日期:2012-12-01 00:00:00