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https://www.readbyqxmd.com/read/27899353/anos1-a-unified-nomenclature-for-kallmann-syndrome-1-gene-kal1-and-anosmin-1
#1
Fernando de Castro, Ruth Seal, Roberto Maggi
It is accepted that confusion regarding the description of genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 gene, to propose an update of the nomenclature of the gene, as there was a convention in the literature of using the 'KAL1' symbol, when referring to the gene, but using the name 'anosmin-1' when referring to the protein. The new name, ANOS1, reflects protein name and is more transferrable across species...
November 29, 2016: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#2
Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27863011/congenital-anosmia-our-experience-of-eleven-patients-with-aplasia-or-hypoplasia-of-the-olfactory-tract
#3
Jason Powell, Ivan Zammit-Maempel, Sean Carrie
Anosmia is present in approximately 1% of the population and can have a significant impact on quality of life (1) . In contrast to acquired anosmia, congenital anosmia is a relatively rare condition characterized by a complete lack of olfactory perception and the aplasia or hypoplasia of the olfactory bulb. Kallmann syndrome (congenital hypogonadotropic hypogonadism and anosmia) is the best known condition assoicated with congenital anosmia (2,3) . Kallmann Syndrome has a prevalence of around 1 in 8000, and is five times more common in men than women (2,3) ...
November 14, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27809610/sexuality-and-quality-of-life-in-congenital-hypogonadisms
#4
María Fernanda Garrido Oyarzún, Camil Castelo-Branco
Turner syndrome and idiopathic congenital hypogonadism including Kallmann syndrome are conditions associated to a large number of widely known comorbidities that need a medical support forever. One of the characteristics shared by both conditions is the lack of sexual development that influencing the sexuality functioning and quality of life of the affected women. Few studies have been conducted to assess these topics, but they need to be considered in the treatment to all women with hypogonadism. This review on the major medical issues and psychological aspects, also focus in the present knowledge about sexual function and quality of life of women with Turner syndrome and idiopathic congenital hypogonadism, which aims to help in the comprehensive management of these patients...
November 4, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27803842/what-do-we-learn-from-the-murine-jacob-nsmf-gene-knockout-for-human-disease
#5
Christina Spilker, Katarzyna M Grochowska, Michael R Kreutz
Mutations in the NSMF gene have been related to Kallmann syndrome. Conflicting results have been reported on the subcellular localization of Jacob/NELF, the protein encoded by the NSMF gene. Some reports indicate an extracellular localization and a function as a guidance molecule for migration of GnRH-positive neurons from the olfactory placode to the hypothalamus. Other studies have shown protein transport of Jacob from synapse-to-nucleus and indicate a role of the protein in neuronal activity-dependent gene expression...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27766807/kallmann-syndrome-and-chronic-myeloid-leukemia-a-rare-occurrence
#6
Neelam N Redkar, Udit Saraf, Rajit Pillai, Kavita J RawatAssociate Professor In General Medicine Seth G S Medical College And K E M H Mumbai Maharashtra
No abstract text is available yet for this article.
October 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27715389/cell-adhesion-to-anosmin-via-%C3%AE-5%C3%AE-1-%C3%AE-4%C3%AE-1-and-%C3%AE-9%C3%AE-1-integrins
#7
Yukinori Endo, Hiroko Ishiwata-Endo, Kenneth M Yamada
Anosmin is an extracellular matrix protein, and genetic defects in anosmin result in human Kallmann syndrome. It functions in neural crest formation, cell adhesion, and neuronal migration. Anosmin consists of multiple domains, and it has been reported to bind heparan sulfate, FGF receptor, and UPA. In this study, we establish cell adhesion/spreading assays for anosmin and use them for antibody inhibition analyses to search for an integrin adhesion receptor. We find that α5β1, α4β1, and α9β1 integrins are needed for effective adhesive receptor function in cell adhesion and cell spreading on anosmin; adhesion is inhibited by both RGD and α4β1 CS1-based peptides...
August 9, 2016: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/27679830/kallmann-syndrome-and-deafness-an-uncommon-combination-a-case-report-and-a-literature-review
#8
Nader Salama
BACKGROUND: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. CASE: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation...
August 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/27616149/reversal-of-congenital-hypogonadotropic-hypogonadism-in-a-man-with-kallmann-syndrome-due-to-sox10-mutation
#9
LETTER
Luigi Maione, Sylvie Brailly-Tabard, Jérôme Nevoux, Jérôme Bouligand, Jacques Young
No abstract text is available yet for this article.
December 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27562378/variations-in-multiple-syndromic-deafness-genes-mimic-non-syndromic-hearing-loss
#10
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27550091/hybrid-bio-photo-electro-chemical-cells-for-solar-water-splitting
#11
Roy I Pinhassi, Dan Kallmann, Gadiel Saper, Hen Dotan, Artyom Linkov, Asaf Kay, Varda Liveanu, Gadi Schuster, Noam Adir, Avner Rothschild
Photoelectrochemical water splitting uses solar power to decompose water to hydrogen and oxygen. Here we show how the photocatalytic activity of thylakoid membranes leads to overall water splitting in a bio-photo-electro-chemical (BPEC) cell via a simple process. Thylakoids extracted from spinach are introduced into a BPEC cell containing buffer solution with ferricyanide. Upon solar-simulated illumination, water oxidation takes place and electrons are shuttled by the ferri/ferrocyanide redox couple from the thylakoids to a transparent electrode serving as the anode, yielding a photocurrent density of 0...
2016: Nature Communications
https://www.readbyqxmd.com/read/27502037/targeted-next-generation-sequencing-approach-identifies-eighteen-new-candidate-genes-in-normosmic-hypogonadotropic-hypogonadism-and-kallmann-syndrome
#12
Samuel D Quaynor, Maggie E Bosley, Christina G Duckworth, Kelsey R Porter, Soo-Hyun Kim, Hyung-Goo Kim, Lynn P Chorich, Megan E Sullivan, Jeong-Hyeon Choi, Richard S Cameron, Lawrence C Layman
The genetic basis is unknown for ∼60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothalamic, pituitary, and/or olfactory pathways, or suggested by chromosome rearrangements. Selected variants were subjected to Sanger DNA sequencing, the gold standard. The frequency of Sanger-confirmed variants was determined using the ExAC database. Variants were classified as likely pathogenic (frameshift, nonsense, and splice site) or predicted pathogenic (nonsynonymous missense)...
December 5, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27435966/franz-josef-kallmann-1897-1965
#13
Stephen Pow, Frank W Stahnisch
No abstract text is available yet for this article.
July 19, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27388255/eugenics-ideals-racial-hygiene-and-the-emigration-process-of-german-american-neurogeneticist-franz-josef-kallmann-1897-1965
#14
Stephen Pow, Frank W Stahnisch
Biological psychiatry in the early twentieth century was based on interrelated disciplines, such as neurology and experimental biology. Neuropsychiatrist Franz Josef Kallmann (1897-1965) was a product of this interdisciplinary background who showed an ability to adapt to different scientific contexts, first in the field of neuromorphology in Berlin, and later in New York. Nonetheless, having innovative ideas, as Kallmann did, could be an ambiguous advantage, since they could lead to incommensurable scientific views and marginalization in existing research programs...
July 2016: Journal of the History of the Neurosciences
https://www.readbyqxmd.com/read/27379494/arachnoid-cyst-a-further-anomaly-associated-with-kallmann-syndrome
#15
Luca Massimi, Alessandro Izzo, Giovanna Paternoster, Paolo Frassanito, Concezio Di Rocco
BACKGROUND: Kallmann syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia. It is characterized by a significant clinical and genetic heterogeneity; actually, it may present several non-reproductive non-olfactory anomalies, and all the ways of genetic transmission can be involved in the inheritance of the disease. Although six pathogenesis-related genes have been identified so far, KS remains sporadic in 70 % of the cases, and the genetic diagnosis is not available for all of them...
September 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27291295/perinatal-midline-astrocyte-development-is-impaired-in-fibroblast-growth-factor-8-hypomorphic-mice
#16
Courtney E Stewart, Kristina M Corella, Brittany D Samberg, Paula T Jones, Megan L Linscott, Wilson C J Chung
Our previous studies showed that Fgf8 mutations can cause Kallmann syndrome (KS), a form of congenital hypogonadotropic hypogonadism, in which patients do not undergo puberty and are infertile. Interestingly, some KS patients also have agenesis of the corpus callosum (ACC) suggesting that KS pathology is not limited to reproductive function. Here, we asked whether FGF8 dysfunction is the underlying cause of ACC in some KS patients. Indeed, early studies in transgenic mice with Fgf8 mutations reported the presence of failed or incomplete corpus callosum formation...
September 1, 2016: Brain Research
https://www.readbyqxmd.com/read/27184500/anosmin-1-interacts-with-the-prokineticin-receptor-2-in-vitro-indicating-a-molecular-link-between-both-proteins-in-the-pathogenesis-of-kallmann-syndrome
#17
Verónica Murcia-Belmonte, Verónica Astillero-López, Pedro F Esteban
Sexual maturation and olfactory bulb defects found in prokineticin 2 (Pk2) and prokineticin receptor 2 (Pkr2) mutant mice resembling the phenotypic characteristics of Kallmann syndrome (KS), gave rise to the question of whether these genes would have a role in KS pathogenesis. Later, mutations in both genes were identified in patients suffering from KS. The gene responsible for the Xlinked form of KS, ANOS1, encodes the ECM protein anosmin 1. Among other functions, anosmin 1 can regulate the activity of FGFR1, encoded by one of the genes involved in the autosomal transmission of KS...
2016: Protein and Peptide Letters
https://www.readbyqxmd.com/read/27168972/first-applications-of-a-targeted-exome-sequencing-approach-in-fetuses-with-ultrasound-abnormalities-reveals-an-important-fraction-of-cases-with-associated-gene-defects
#18
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis
Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often elusive and the resulting inability to provide a precise diagnosis precludes proper reproductive and fetal risk assessment. We report the development and first applications of an expanded exome sequencing-based test, coupled to a bioinformatics-driven prioritization algorithm, targeting gene disorders presenting with abnormal prenatal ultrasound findings...
2016: PeerJ
https://www.readbyqxmd.com/read/27101217/kallmann-syndrome-eugenics-and-the-man-behind-the-eponym
#19
Carlos A Benbassat
Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from three families who presented with a syndrome of missed puberty, anosmia, and color blindness. Yet, several other eponyms for the same syndrome can be found in the literature. Despite the fact that Kallmann syndrome is the most recognized eponym, very little is known about the man for whom the syndrome is named. A biographical note on Franz Joseph Kallmann and his historical context is presented...
2016: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/27045914/the-effects-of-avatars-stereo-vision-and-display-size-on-reaching-and-motion-reproduction
#20
Carlo Camporesi, Marcelo Kallmann
Thanks to recent advances on motion capture devices and stereoscopic consumer displays, animated virtual characters can now realistically interact with users in a variety of applications. We investigate in this paper the effect of avatars, stereo vision and display size on task execution in immersive virtual environments. We report results obtained with three experiments in varied configurations that are commonly used in rehabilitation applications. The first experiment analyzes the accuracy of reaching tasks under different system configurations: with and without an avatar, with and without stereo vision, and employing a 2D desktop monitor versus a large multi-tile visualization display...
May 2016: IEEE Transactions on Visualization and Computer Graphics
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