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Phosphorylation-Regulated Activation of the Arabidopsis RRS1-R/RPS4 Immune Receptor Complex Reveals Two Distinct Effector Recognition Mechanisms.

Hailong Guo, Hee-Kyung Ahn, Jan Sklenar, Jianhua Huang, Yan Ma, Pingtao Ding, Frank L H Menke, Jonathan D G Jones,

The Arabidopsis immune receptors RPS4 and RRS1 interact to co-confer responsiveness to bacterial effectors. The RRS1-R allele, with RPS4, responds to AvrRps4 and PopP2, whereas RRS1-S responds only to AvrRps4. Here, we show that the C terminus of RRS1-R but not RRS1-S is phosphorylated. Phosphorylation at Thr1214 in the WRKY ... Read more >>

Cell Host Microbe (Cell host & microbe)
[2020, :]

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[Genetic analysis of a male infant with Menkes disease].

Yan Huang, Guanghua Liu, Shibiao Wang, Hui Liu, Youfeng Zhou,

OBJECTIVE:To carry out genetic testing for a male infant suspected for Menkes disease. METHODS:Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Suspected variants were ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(4):479-482]

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Regional callosal integrity and bilaterality of limb weakness in amyotrophic lateral sclerosis.

Sicong Tu, Chenyu Wang, Ricarda A L Menke, Kevin Talbot, Michael Barnett, Matthew C Kiernan, Martin R Turner,

Background and Objectives: The corpus callosum is a site of pathological involvement in the neurodegenerative disorder amyotrophic lateral sclerosis (ALS). The corpus callosum shows widespread cortical connectivity topographically distributed along its length. Initial limb weakness in ALS is typically unilateral, becoming bilateral with disease progression. The precise anatomical substrate for ... Read more >>

Amyotroph Lateral Scler Frontotemporal Degener (Amyotrophic lateral sclerosis & frontotemporal degeneration)
[2020, :1-7]

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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez, Shane McKee, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill A Rosenfeld Mokry, Emanuela Scarano, Marwan Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C Hennekam,

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 ... Read more >>

Hum. Genet. (Human genetics)
[2020, :]

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A hierarchical transcriptional network controls appressorium-mediated plant infection by the rice blast fungus Magnaporthe oryzae

Miriam Oses-Ruiz, Magdalena Martin-Urdiroz, Darren Soanes, Michael Kershaw, Neftaly Cruz-Mireles, Guadalupe Valdovinos-Ponce, Camilla Molinari, George Littlejohn, Paul Derbyshire, Frank Menke, Barbara Valent, Nicholas Talbot,

Rice blast is a pervasive and devastating disease that threatens rice production across the world. In spite of its importance to global food security, however, the underlying biology of plant infection by the blast fungus Magnaporthe oryzae remains poorly understood. In particular, it is unclear how the fungus elaborates a ... Read more >>

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Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J H Baars, Catherine Boileau, Dominique Bonneau, Anne Claire Brehin, Yline Capri, Ho Y Cheung, Eelco Dulfer, Marion Gerard, Laurent Gouya, Yvonne Hilhorst-Hofstee, Arjan C Houweling, Bertrand Isidor, Lauriane Le Gloan, Leonie A Menke, Sylvie Odent, Fanny Morice-Picard, Clemence Vanlerberghe, Els Voorhoeve, J Peter van Tintelen, Alessandra Maugeri, Pauline Arnaud,

Disease-causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number of identified cases. The purpose of this retrospective cross-sectional multicenter study is to elucidate the genotype and phenotype in an international cohort of TGFB3 patients. Eleven (eight novel) ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, :]

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Increased IgA anti-citrullinated protein antibodies in the periodontal inflammatory exudate of healthy individuals compared to rheumatoid arthritis patients.

Poerwati Soetji Rahajoe, Menke de Smit, Gerbrich Schuurmans, Elisabeth Raveling-Eelsing, Nyoman Kertia, Arjan Vissink, Johanna Westra,

AIM:To assess rheumatoid arthritis (RA)-associated autoantibodies in the gingivocrevicular fluid (GCF) of RA patients and healthy controls with or without periodontal disease, as chronic mucosal inflammation in periodontal disease is hypothesized to contribute to the formation of these autoantibodies. MATERIALS AND METHODS:Anti-citrullinated protein antibodies (ACPA), rheumatoid factor (RF), and their ... Read more >>

J. Clin. Periodontol. (Journal of clinical periodontology)
[2020, :]

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Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.

Katie L Canalichio, Karen M Chisholm, Thomas S Lendvay,

Menkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy. This X-linked disorder results from mutations in the ATP7A gene. Along with neurological decline, characteristic coarse appearance of the hair is seen. Urological issues are prevalent in this patient population, ... Read more >>

Urology (Urology)
[2020, 136:238-240]

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Prediction of prognosis in patients with tetralogy of Fallot based on deep learning imaging analysis.

Gerhard Paul Diller, Stefan Orwat, Julius Vahle, Ulrike M M Bauer, Aleksandra Urban, Samir Sarikouch, Felix Berger, Philipp Beerbaum, Helmut Baumgartner, ,

OBJECTIVE:To assess the utility of machine learning algorithms for automatically estimating prognosis in patients with repaired tetralogy of Fallot (ToF) using cardiac magnetic resonance (CMR). METHODS:We included 372 patients with ToF who had undergone CMR imaging as part of a nationwide prospective study. Cine loops were retrieved and subjected to ... Read more >>

Heart (Heart (British Cardiac Society))
[2020, :]

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Neuroprotection with rasagiline in patients with macula-off retinal detachment: A randomized controlled pilot study.

Siqing Yu, Carsten Framme, Marcel Nico Menke, Lieselotte Erika Berger, Martin Sebastian Zinkernagel, Marion Rohit Munk, Sebastian Wolf, Andreas Ebneter,

We aimed to evaluate the neuroprotective efficacy of rasagiline in pseudophakic patients who had surgery for macula-off rhegmatogenous retinal detachment (RRD). This was a 6-month, prospective, randomized, double-blind, placebo-controlled pilot study. Patients presenting with acute macula-off RRD were recruited and randomized 1:1 to receive rasagiline 1 mg/day or placebo for 7 ... Read more >>

Sci Rep (Scientific Reports)
[2020, 10(1):4948]

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A sensor kinase controls turgor-driven plant infection by the rice blast fungus.

Lauren S Ryder, Yasin F Dagdas, Michael J Kershaw, Chandrasekhar Venkataraman, Anotida Madzvamuse, Xia Yan, Neftaly Cruz-Mireles, Darren M Soanes, Miriam Oses-Ruiz, Vanessa Styles, Jan Sklenar, Frank L H Menke, Nicholas J Talbot,

The blast fungus Magnaporthe oryzae gains entry to its host plant by means of a specialized pressure-generating infection cell called an appressorium, which physically ruptures the leaf cuticle1,2. Turgor is applied as an enormous invasive force by septin-mediated reorganization of the cytoskeleton and actin-dependent protrusion of a rigid penetration hypha3. ... Read more >>

Nature (Nature)
[2019, 574(7778):423-427]

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Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers.

Koen M A Dreijerink, Johannes A Rijken, C J Compaijen, Henri J L M Timmers, Anouk N A van der Horst-Schrivers, Rachel S van Leeuwaarde, P Sytze van Dam, C René Leemans, Eveline W C M van Dam, Chris Dickhoff, Charlotte J Dommering, Pim de Graaf, G J C Zwezerijnen, Paul van der Valk, C Willemien Menke-Van der Houven van Oordt, Erik F Hensen, Eleonora P M Corssmit, E Marelise W Eekhoff,

CONTEXT:Current guidelines do not consistently recommend imaging beyond the head and neck region in succinate dehydrogenase subunit D (SDHD) mutation carriers as long as catecholamine metabolite levels are within the reference range. PARTICIPANTS:We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2019, 104(11):5421-5426]

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Animal Models of Normal and Disturbed Iron and Copper Metabolism.

Xiaoyu Wang, Michael D Garrick, James F Collins,

Research on the interplay between iron and copper metabolism in humans began to flourish in the mid-20th century, and diseases associated with dysregulated homeostasis of these essential trace minerals are common even today. Iron deficiency is the most frequent cause of anemia worldwide, leading to significant morbidity, particularly in developing ... Read more >>

J. Nutr. (The Journal of nutrition)
[2019, 149(12):2085-2100]

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A treatment-based algorithm for identification of diabetes type in the National Health and Nutrition Examination Survey.

Mitra Mosslemi, Hannah L Park, Christine E McLaren, Nathan D Wong,

In epidemiology studies, identification of diabetes type (type 1 vs. type 2) among study participants with diabetes is important; however, conventional diabetes type identification approaches that include age at diabetes diagnosis as an initial criterion introduces biases. Using data from the National Health and Nutrition Examination Survey, we have developed ... Read more >>

Cardiovasc Endocrinol Metab (Cardiovascular endocrinology & metabolism)
[2020, 9(1):9-16]

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Cohort Profile: the Oxford Parkinson's Disease Centre Discovery Cohort Magnetic Resonance Imaging sub-study (OPDC-MRI)

Ludovica Griffanti, Johannes Klein, Konrad Szewczyk-Krolikowski, Ricarda Menke, Michal Rolinski, Thomas Barber, Michael Lawton, Samuel Evetts, Faye Begeti, Marie Crabbe, Jane Rumbold, Richard Wade-Martins, Michele Hu, Clare Mackay,

Purpose: The Oxford Parkinson's Disease Centre (OPDC) Discovery Cohort magnetic resonance imaging (MRI) sub-study (OPDC-MRI) collects high quality multimodal brain MRI together with deep longitudinal clinical phenotyping in patients with Parkinson's, at-risk individuals and healthy elderly participants. The primary aim is to detect pathological changes in brain structure and function, ... Read more >>

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Decalcification of Breast Cancer Bone Metastases With EDTA Does Not Affect ER, PR, and HER2 Results.

Suzanne C van Es, Bert van der Vegt, Frederike Bensch, Sophie Gerritse, Erik J van Helden, Eline Boon, Lindsay Angus, Jelle Overbosch, Catharina W Menke-van der Houven van Oordt, Henk M Verheul, Carla M L van Herpen, Agnes Jager, Sjoukje F Oosting, Elisabeth G E de Vries, Carolina P Schröder,

In metastatic breast cancer (MBC), expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) guides treatment selection. In case of bone-only metastatic disease, ER, PR, and HER2 status assessment may be hampered by decalcification. We aimed to determine the optimal decalcification method, and to ... Read more >>

Am. J. Surg. Pathol. (The American journal of surgical pathology)
[2019, 43(10):1355-1360]

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Risk factors of unmet needs among women with breast cancer in the post-treatment phase.

Deborah N N Lo-Fo-Wong, Hanneke C J M de Haes, Neil K Aaronson, Doris L van Abbema, Mathilda D den Boer, Marjan van Hezewijk, Marcelle Immink, Ad A Kaptein, Marian B E Menke-Pluijmers, Anna K L Reyners, Nicola S Russell, Manon Schriek, Sieta Sijtsema, Geertjan van Tienhoven, Mathilde G E Verdam, Mirjam A G Sprangers,

OBJECTIVE:Unmet health care needs require additional care resources to achieve optimal patient well-being. In this nationwide study we examined associations between a number of risk factors and unmet needs after treatment among women with breast cancer, while taking into account their health care practices. We expected that more care use ... Read more >>

Psychooncology (Psycho-oncology)
[2020, 29(3):539-549]

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Archival, paleopathological and aDNA-based techniques in leprosy research and the case of Father Petrus Donders at the Leprosarium 'Batavia', Suriname.

Jaap T Van Dissel, Toine Pieters, Annemieke Geluk, George Maat, Henk E Menke, Maria Tió-Coma, Eveline Altena, Jeroen F J Laros, Malti R Adhin,

OBJECTIVE:We assessed whether Petrus Donders (died 1887), a Dutch priest who for 27 years cared for people with leprosy in the leprosarium Batavia, Suriname, had evidence of Mycobacterium (M.) leprae infection. A positive finding of M. leprae ancient (a)DNA would contribute to the origin of leprosy in Suriname. MATERIALS:Skeletal remains ... Read more >>

Int J Paleopathol (International journal of paleopathology)
[2019, 27:1-8]

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Eruption on the vulva and groin.

Jane Harrell, Colton Nielson, Paula Beers, Eric Rudnick, Addie Walker, Kiran Motaparthi,

JAAD Case Rep (JAAD case reports)
[2020, 6(1):6-8]

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Treatment of Membranous Nephropathy in Patients With THSD7A Antibodies Using Immunoadsorption.

Julia Weinmann-Menke, Stefan Holtz, Daniel Sollinger, Mara Dörken, Simone Boedecker, Beate Schamberger, Frederick Pfister, Kerstin Amann, Jens Lutz,

Antibodies against THSD7A (thrombospondin type 1 domain-containing protein 7A) have been proposed to play a causal role in the development of nephrotic syndrome in patients with THSD7A antibody-positive membranous nephropathy. We hypothesized that removal of these antibodies from plasma could lead to a rapid reduction in proteinuria. Using immunoadsorption to ... Read more >>

Am. J. Kidney Dis. (American journal of kidney diseases : the official journal of the National Kidney Foundation)
[2019, 74(6):849-852]

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Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Hessa S Alsaif, Mohammad Al-Owain, Martin E Barrios-Llerena, Ghada Gosadi, Yousef Binamer, David Devadason, Jane Ravenscroft, Mohnish Suri, Fowzan S Alkuraya,

MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small σ subunit of the AP-1 complex. Central to the pathogenesis of MEDNIK syndrome is abnormal AP-1-mediated trafficking of copper transporters; this abnormal trafficking results in a ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 105(5):1016-1022]

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Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).

Taylor Woodfin, Christine Stoops, Joseph B Philips, Edward Lose, Fady M Mikhail, Anna Hurst,

BACKGROUND:Koolen-de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency. METHOD:We identified an infant ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2019, 7(8):e829]

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Copper and the brain noradrenergic system.

Svetlana Lutsenko, Clorissa Washington-Hughes, Martina Ralle, Katharina Schmidt,

Copper (Cu) plays an essential role in the development and function of the brain. In humans, genetic disorders of Cu metabolism may cause either severe Cu deficiency (Menkes disease) or excessive Cu accumulation (Wilson disease) in the brain tissue. In either case, the loss of Cu homeostasis results in catecholamine ... Read more >>

J. Biol. Inorg. Chem. (Journal of Biological Inorganic Chemistry)
[2019, 24(8):1179-1188]

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Pre-conception blood pressure and evidence of placental malperfusion.

Jacqueline Atlass, Marie Menke, W Tony Parks, Janet M Catov,

BACKGROUND:Evidence of placental maternal vascular malperfusion is associated with significant perinatal outcomes such as preeclampsia, intrauterine growth restriction and preterm birth. Elevations in pre-pregnancy blood pressure increase the risk for poor perinatal outcomes; however, the evidence linking pre-pregnancy blood pressure and placental malperfusion is sparse. MATERIALS AND METHODS:We conducted a ... Read more >>

BMC Pregnancy Childbirth (BMC pregnancy and childbirth)
[2020, 20(1):25]

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Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.

Jessica Warnink-Kavelaars, Anita Beelen, Tine M H J Goedhart, Lisanne E de Koning, Frans Nollet, Mattijs W Alsem, Leonie A Menke, Raoul H H Engelbert,

Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents' perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual factors and support needs, we interviewed 19 adolescents with Marfan syndrome. Audio-recordings were transcribed, ... Read more >>

Eur. J. Pediatr. (European journal of pediatrics)
[2019, 178(12):1883-1892]

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