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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Apoptosis-inducing factor, mitochondrion-associated 1

Harlequin, PDCD8
This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, OUT, PrP
Papers on Harlequin
Facial features in Harlequin ichthyosis: Clinical findings about 4 cases.
Veyssière et al., Caen, France. In Rev Stomatol Chir Maxillofac Chir Orale, Jan 2016
UNASSIGNED: We report 4 cases of Harlequin ichthyosis, which is a rare and severe congenital ichthyosis involving the face.
Botulinum toxin for treatment of Harlequin syndrome.
Vasconcellos et al., Rio de Janeiro, Brazil. In Parkinsonism Relat Disord, Jan 2016
UNASSIGNED: We described a patient with Harlequin syndrome, a rare neurological condition, characterized by unilateral facial sweating and flushing, who had a good response to botulinum toxin application.
Harlequin syndrome in a patient with putative autoimmune autonomic ganglionopathy.
Karam, Chapel Hill, United States. In Auton Neurosci, Jan 2016
UNASSIGNED: The author presents a patient with Harlequin and Horner syndromes as part of an autoimmune autonomic ganglionopathy and suggests implication for work-up and management.
Harlequin Syndrome Following Implantation of Intrathecal Pumps: A Case Series.
Narang et al., Boston, United States. In Neuromodulation, Dec 2015
OBJECTIVE: Harlequin syndrome (HS) is a condition that has been associated with one-sided sympathetic denervation of the face, characterized by contralateral hemifacial flushing and relative hyperhidrosis.
Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.
Akiyama et al., Nagoya, Japan. In J Dermatol Sci, Dec 2015
BACKGROUND: Harlequin ichthyosis (HI), one of the most severe genetic skin disorders, is autosomal recessively inherited.
Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis.
Arunachal et al., Vellore, India. In J Clin Diagn Res, Nov 2015
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder.
Harlequin Syndrome After Thoracic Paravertebral Block.
Fleischmann et al., Kiel, Germany. In A A Case Rep, Nov 2015
UNASSIGNED: Harlequin syndrome is characterized by the sudden onset of unilateral facial flushing and sweating, often preceded by exercise, excessive heat, or, rarely, regional anesthesia.
Noteworthy clinical findings of harlequin ichthyosis: Digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations.
Akiyama et al., Nagoya, Japan. In Br J Dermatol, Nov 2015
UNASSIGNED: Harlequin ichthyosis (HI) (OMIM 242500) is the most severe form of autosomal recessive congenital ichthyosis caused by mutations in the ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12) gene (ABCA12).
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
Akiyama et al., Nagoya, Japan. In Pediatr Int, Aug 2015
Harlequin ichthyosis (HI) is the most severe form.
Harlequin testicle and other uncommon pathologies masquerading at routine scrotal ultrasound.
Patel et al., Seattle, United States. In Ultrasound Q, Jun 2015
Many scrotal conditions manifest similarly as pain, swelling, a palpable abnormality, or a combination of these symptoms.
Effect of Reduced Stiffness Dance Flooring on Lower Extremity Joint Angular Trajectories During a Ballet Jump.
Smith et al., Springfield, United States. In J Dance Med Sci, 2014
They performed sautés on a (low stiffness) Harlequin ® WoodSpring Floor and on a vinyl-covered hardwood on concrete floor.
Recent advances in the genetics and management of harlequin ichthyosis.
O'Toole et al., London, United Kingdom. In Pediatr Dermatol, 2014
Harlequin ichthyosis (HI) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (ARCIs).
Harlequin syndrome after thyroidectomy for compressive retrosternal goiter. Case report and review of the literature.
Vermeersch et al., In Acta Chir Belg, 2014
A 74-year-old woman with known euthyroid multinodular retrosternal goiter necessitated an urgent intubation at home, due to acute respiratory distress evoked by tracheal compression.
[Evaluation of sudomotor function].
Asahina, Chiba, Japan. In Rinsho Shinkeigaku, 2013
Abnormal sweating, which can be global or localized, is classified into hyperhidrosis and hypohidrosis, and detection of abnormal sweating, such as Horner's syndrome and Harlequin syndrome, is clinically useful for regional diagnosis of neurological lesions.
A role for apoptosis-inducing factor in T cell development.
Rath et al., New Delhi, India. In J Exp Med, 2012
Aif serves a lineage-specific nonredundant antiapoptotic role in the T cell lineage by regulating reactive oxygen species during thymic beta-selection.
Bnip3 and AIF cooperate to induce apoptosis and cavitation during epithelial morphogenesis.
Li et al., New Brunswick, United States. In J Cell Biol, 2012
These results uncover a mechanism of cavitation through hypoxia-induced apoptosis of the core cells mediated by HIFs, Bnip3, and AIF.
The regulatory roles of apoptosis-inducing factor in the formation and regression processes of ocular neovascularization.
Miller et al., Boston, United States. In Am J Pathol, 2012
Apoptosis-inducing factor plays a role in the formation and regression processes of ocular neovascularization
Steroid receptor coactivator-interacting protein (SIP) inhibits caspase-independent apoptosis by preventing apoptosis-inducing factor (AIF) from being released from mitochondria.
Shang et al., Beijing, China. In J Biol Chem, 2012
Our data demonstrate that SIP is a novel regulator in caspase-independent and AIF-mediated apoptosis.
TWEAK affects keratinocyte G2/M growth arrest and induces apoptosis through the translocation of the AIF protein to the nucleus.
Tsapis et al., Paris, France. In Plos One, 2011
Confocal microscopy showed that TWEAK induces the cleavage and the translocation of apoptosis inducing factor (AIF) from the mitochondria to the nucleus, thus initiating caspase-independent apoptosis.
The harlequin mouse mutation downregulates apoptosis-inducing factor.
Ackerman et al., Bar Harbor, United States. In Nature, 2002
Hq cerebellar granule cells are susceptible to peroxide-mediated apoptosis, but can be rescued by AIF expression; overexpression of AIF in wild-type granule cells decreases peroxide-mediated cell death, suggesting AIF serves as a free radical scavenger
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