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Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

Journal of Genetics and Genomics 2020年第10期47卷 618-626页

作者： Xiulan Su Yufei Feng Sofia A.Rahman Shuilong Wu Guoan Li Franz Rüschendorf Lei Zhao Hongwei cui Junqing Liang Liang Fang Hao Hu Sebastian Froehler Yong Yu Giannino Patone Oliver Hummel Qinghua chen Klemens Raile friedrich c.luft Sylvia Bahring Khalid Hussain Wei chen Jingjing Zhang Maolian Gong clinical Medicine Research center Affiliated Hospital of Inner Mongolia Medical UniversityHuhhot010050China Affiliated Hospital of Guangdong Medical University&Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University Zhanjiang524001China Marine Medical Research Institute of Guangdong Zhanjiang Zhanjiang524023China Genomic Medicine Programme UCL Institute of Child Health and Great Ormond Street Hospital for Children30 Guilford StreetLondonWC1N 1EHUK Max-Delbrueck-center for Molecular Medicine(MDc) Robert-Roessle-Str.10Berlin13125Germany Department of Radiology Affiliated Hospital of Inner Mongolia Medical UniversityHuhhot010050China Affiliated People Hospital of Inner Mongolia Medical University Huhhot010050China Department of Biology Southern University of Science and TechnologyShenzhen518055China Guangzhou Women and children's Medical center Guangzhou510623China Department of Radiology Beijing Tongren HospitalCapital Medical UniversityBeijing100730China Experimental and clinical Research center(EcRc) A Joint Cooperation Between the Charite Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association(MDC)Lindenberger Weg.80Berlin13125Germany Department of Paediatric Medicine Division of Endocrinology Sidra Medical&Research CenterOPCDohaC6-337Qatar Medi-X Institute SUSTec Academy for Advanced Interdisciplinary StudiesSouthern University of Science and TechnologyShenzhen518055China

congenital hearing loss is a common disorder worldwide.Heterogeneous gene variation accounts for approximately 20-25%of such patients.We investigated a five-generation chinese family with autosomaldominant nonsyndromic sensorineural hearing loss(SNHL).No wave was detected in the pure-tone audiometry,and the auditory brainstem response was absent in all patients.computed tomography of the patients,as well as of two sporadic SNHL cases,showed bilateral inner ear anomaly,cochlear maldevelopment,absence of the osseous spiral lamina,and an enlarged vestibular aqueduct.Such findings were absent in nonaffected persons.We used linkage analysis and exome sequencing and uncovered a heterozygous missense mutation in the PI4 KB gene(p.Gln121 Arg)encoding phosphatidylinositol 4-kinaseβ(PI4 KB)from the patients in this family.In addition,3 missense PI4 KB(p.Val434 Gly,p.Glu667 Lys,and p.Met739 Arg)mutations were identified in five patients with nonsyndromic SNHL from 57 sporadic cases.No such mutations were present within 600 chinese controls,the 1000 genome project,gnom AD,or similar databases.Depleting pi4 kb m RNA expression in zebrafish caused inner ear abnormalities and audiosensory impairment,mimicking the patient phenotypes.Moreover,overexpression of 4 human missense PI4 KB mutant m RNAs in zebrafish embryos resulted in impaired hearing function,suggesting dominant-negative effects.Taken together,our results reveal that PI4 KB mutations can cause SNHL and inner ear malformation.PI4 KB should be included in neonatal deafness screening.

关键词： congenital sensorineural hearing loss Inner ear malformation Phosphatidylinositol 4-kinaseβ Mutations Zebrafish

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Tensorial tomographic Fourier ptychography with applications to muscle tissue imaging

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Advanced Photonics 2024年第2期6卷 50-60页

作者： Shiqi Xu Xi Yang Paul Ritter Xiang Dai Kyung chul Lee Lucas Kreiss Kevin c.Zhou Kanghyun Kim Amey chaware Jadee Neff carolyn Glass Seung Ah Lee Oliver friedrich Roarke Horstmeyer Duke University DurhamNorth CarolinaUnited States friedrich-Alexander University ErlangenGermany Uc San Diego La JollaCaliforniaUnited States Yonsei University SeoulRepublic of Korea Uc Berkeley BerkeleyCaliforniaUnited States Duke University Medical center DurhamNorth CarolinaUnited States

We report tensorial tomographic Fourier ptychography(T^(2)oFu),a nonscanning label-free tomographic microscopy method for simultaneous imaging of quantitative phase and anisotropic specimen information in 3D.Built upon Fourier ptychography,a quantitative phase imaging technique,T^(2)oFu additionally highlights the vectorial nature of light.The imaging setup consists of a standard microscope equipped with an LED matrix,a polarization generator,and a polarization-sensitive camera.Permittivity tensors of anisotropic samples are computationally recovered from polarized intensity measurements across three dimensions.We demonstrate T^(2)oFu’s efficiency through volumetric reconstructions of refractive index,birefringence,and orientation for various validation samples,as well as tissue samples from muscle fibers and diseased heart tissue.Our reconstructions of healthy muscle fibers reveal their 3D fine-filament structures with consistent orientations.Additionally,we demonstrate reconstructions of a heart tissue sample that carries important polarization information for detecting cardiac amyloidosis.

关键词： computational imaging three-dimensional imaging phase retrieval microscopy polarization-sensitive imaging labelfree imaging

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Primary carbohydrate metabolism genes participate in heat-stress memory at the shoot apical meristem of Arabidopsis thaliana

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Molecular Plant 2024年第4期17卷 676-676页

作者： Justyna Jadwiga Olas Federico Apelt Maria Grazia Annunziata Sheeba John Sarah Isabel Richard Saurabh Gupta friedrich Kragler Salma Balazadeh Bernd Mueller-Roeber 不详

(Molecular Plant 14,1508-1524,September 62021)After the original publication of the above article,attentive readers identified errors in Figure 4H that needed correction as follows.Figure 4H contained the erroneous labels“10 DAP(7 DAT),”which should have each read,“7 DAP(4 DAT).”To avoid any confusion and ensure consistency across our figures,we modified some of the col-0 images in a corrected version of Figure 4H below to resemble the exact same col-0 images as in Figure 1c.The details of the changes are as follows:rotation(col-0 Primed,all timepoints;col-0 Triggered,3 DAP and 5 DAP;col-0 Primed/triggered,3 DAP and 5 DAP),replacement(col-0 Triggered,7 DAP),and different cropping(col-0 Primed/triggered,7 DAP).

关键词： Figure metabolism Prime

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Long-term results of olecranon fractures treated using the XS nail® system

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chinese Journal of Traumatology 2022年第6期25卷 336-344页

作者： Leonard Hochtl-Lee Matthias Spalteholz Tim friedrich Raven Arash Moghaddam Wilhelm Friedl Aschaffenburg Trauma and Orthopaedic Research Group Center for OrthopaedicsTrauma Surgery and Sports MedicineHospital Aschaffenburg-Alzenau GGmbHAm Hasenkopf1AschaffenburgGermany center for Orthopaedicsand Trauma Surgery LeipzigGermany Division of Orthopaedics and Trauma Surgery Rotkreuzklinik Wertheim GGmbHWertheim Am MainGermany

Purpose:Olecranon fractures are particularly vulnerable to distraction and subsequent fracture dislocation due to the high tensile forces.Surgical treatment aims at reducing the fracture and restoring the anatomical joint surface condition,as well as neutralizing the strain inhibiting fracture healing.The XS nail®(Intercus GmbH,Bad Blankenberg,Germany),an intramedullary implant exerting compression across the entire fracture surface,unlike plates,leaves a minimal extra-cortical profile,and can be secured with threaded locking wires,thereby retaining the anatomical reduction without displacement or steps within the articular surface,which was often found in tension band wiring.After encouraging initial results,the long-term outcome was assessed.Methods:This retrospective study evaluated the long-term outcome of patients surgically treated at our trauma center between January 2002 and December 2005 using the XS nail®.Patients over the age of 18 years eligible for the study must have undergone surgery for isolated,recent(less than 14 days)traumatic olecranon fractures,without concomitant injuries to the ipsilateral elbow and forearm.Further exclusion criteria were pseudarthrosis,re-fractures and osteotomy for distal humerus surgery,as well as polytraumatized patients unable to aid in their own recovery.Data were retrospectively gathered by standardised questionnaire and patient records,as well as surgery and anesthesiology reports.Data analysis was performed using Microsoft Office Excel?2016.Results:There were 32 patients,13 males(mean age 49.0 years)and 19 females(mean age 68.9 years)with 11 Schatzkers type D,7 each type A and c,5 type B and 2 type E at an average of 55.2 months,all showing complete consolidation.Of them,6 patients had a loss of range of motion with more than 10°in the sagittal plane,and only 1 patient exceeded 10°reduction of supination.Twenty-five patients reported being pain-free under all circumstances,and all but 2 patients(93.75%)had returned to their previous activity level.The average disab

关键词： Olecranon fracture Intramedullary nail Treatment DASH XS nail

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Expression of toxin-related human mono-ADP-ribosyltransferase 3 in human testes

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Asian Journal of Andrology 2006年第A3期8卷 281-287页

作者： Maik friedrich Andreas Grahnert Uwe Paasch Andrea Tannapfel friedrich Koch-Nolte Sunna Hauschildt Institute of Biology Ⅱ Department of ImmunobiologyUniversity of Leipzig D-04103 Leipzig Germany Division of Andrology Department of DermatologyUniversity of Leipzig D-04103 Leipzig Germany Institute of Pathology University of Leipzig D-04103 Leipzig Germany Institute of lmmunology University Hospital D-20246 Hamburg Germany

Aim： To investigate wether the corresponding protein of mono-ADP-ribosyltransferase 3 （ART3） mRNA is expressed in human testes and, if so, whether the expression is cell type-specific. Methods： ART3 mRNA was determined in human testes and sperm by reverse transcription-polymerase chain reaction （RT-PcR）. The glycosylphosphatidylinositol linkage of ART3 was shown by treating ART3-transfected HEK-293-T cells with phospholipase c. Fluorescent activated cell sorter （FAcS）-analyses were used to detect ART3 on mature spermatozoa and immunohistological studies to detect the protein in testes. Results： ART3 protein was shown to be present in testes. It was found on spermatocytes only. It was absent from spermatogonia, spermatids and spermatozoa. The absence of ART3 from spermatozoa was confirmed by FAcS-analysis. ART3 protein was detected neither within a seminoma nor on Leydig cells. conclusion： Here we show for the first time that ART3 protein is expressed in testes in particular on spermatocytes, indicating that ART3 exerts a specific function only required at a particular stage of spermatogenesis.

关键词： mono-ADP-ribosyltransferase 3 testes human spermatocyte spermatogenesis

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Paleomagnetic age and palaeobiological significance of hominoid fossil strata of Yuanmou Basin in Yunnan

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Science china Earth Sciences 2004年第5期47卷 405-411页

作者： friedrich A. Heller Institute of Geophysics ETH Zurich Switzerland CH-8093

The two sections containing hominoid fossils in the Yuanmou Basin, Yunnan Prov-ince have been studied by means of magnetostratigraphy. The results are as follows. The Xiaohe section records over 8 polarity zones corresponding to cande-Kent95 time scale, including c3Br.1n, c3Br.1r, c3Br.2n, c3Br.2r, c4n.1n, c4n.1r, c4n.2n and c4n.2r, attaching to Late Mio-cene. This section comprises two layers of hominoid fossils: the lower layer (the 1st layer in fig. 4) which records the lower portion of c4n.2r with paleomagnetic age of 8.20—8.10 Ma and the upper layer (the 16th layer in fig. 4) which records c3Br.1r with paleomagnetic age of 7.20—7.15 Ma. So the age of hominoid fossils in the Xiaohe section is about 8.20—7.15 Ma. The Leilao section records over 11 polarity zones corresponding to cande-Kent95 time scale, including c3Br, c3Br.1n, c3Br.1r, c3Br.2n, c3Br.2r, c4n.1n, c4n.1r, c4n.2n, c4n.2r, c4n.3n and c4n.3r, attaching to Late Miocene. This section also consists of two layers of hominoid fossils: the lower layer (the 3rd layer in fig. 3) which records c4n.2r with the age of 8.20—8.10 Ma and the upper layer(the 19th layer in fig. 3) which records the middle portion of c3Br with the age of 7.15—7.1 Ma. So the age of hominoid fossils in the Leilao section is about 8.20—7.10 Ma. Sedimentary environments reflected in both sections are extremely similar, and the ages of hominoid fossils are of correspondency. The age of the lower and upper fossil layers is 8.20—8.10 Ma and 7.20—7.10 Ma respectively, which probably imply that hominoids living in Xiaohe and Leilao basins have uniform activity areas. There were hominoids activities all along during 8.00—7.00 MaBP in this field.

关键词： Yuanmou Basin, hominoid, paleomagnetism, chronology.

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Function and regulation of self-reactive marginal zone B cells in autoimmune arthritis

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cellular & Molecular Immunology 2015年第4期12卷 493-503页

作者： Anna-Karin E Palm Heike c friedrich Anja Mezger Maya Salomonsson Linda K Myers Sandra Kleinau Department of cell and Molecular Biology Uppsala University Uppsala Sweden Department of Pediatrics University of Tennessee Health ScienceCenter Memphis TN USA

Polyreactive innate-type B cells account for many B cells expressing self-reactivity in the periphery. Improper regulation of these B cells may be an important factor that underlies autoimmune disease. Here we have explored the influence of self-reactive innate B cells in the development of collagen-induced arthritis （cIA）, a mouse model of rheumatoid arthritis. We show that splenic marginal zone （MZ）, but not B- 1 B cells exhibit spontaneous IgM reactivity to autologous collagen II in na＇=＇ve mice. Upon immunization with heterologous collagen II in complete Freund＇s adjuvant the collagen-reactive MZ B cells expanded rapidly, while the B-1 B cells showed a modest anti-collagen response. The MZ B cells were easily activated by toll-like receptor （TLR） 4 and 9-1igands in vitro, inducing proliferation and cytokine secretion, implying that dual engagement of the B-cell receptor and TLRs may promote the immune response to self-antigen. Furthermore, collagen-primed MZ B cells showed significant antigen-presenting capacity as reflected by cognate T-cell proliferation in vitroand induction of IgG anti-collagen antibodies in vivo. MZ B cells that were deficient in complement receptors I and 2 demonstrated increased proliferation and cytokine production, while Fcy receptor lib deficiency of the cells lead to increased cytokine production and antigen presentation. In conclusion, our data highlight self-reactive MZ B cells as initiators of the autoimmune response in cIA, where complement and Fc receptors are relevant in controlling the self-reactivity in the cells.

关键词： arthritis complement receptors Fc receptors marginal zone B cells, mice

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Electron–plasmon and electron–magnon scattering in ferromagnets from first principles by combining GW and GT self-energies

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npj computational Materials 2021年第1期7卷 1619-1632页

作者： Dmitrii Nabok Stefan Blügel christoph friedrich Peter Grünberg Institut and Institut for Advanced Simulation Forschungszentrum JülichJülich 52425Germany

This work combines two powerful self-energy techniques:the well-known GW method and a self-energy recently developed by us that describes renormalization effects caused by the scattering of electrons with magnons and Stoner excitations.This GT selfenergy,which is fully k-dependent and contains infinitely many spin-flip ladder diagrams,was shown to have a profound impact on the electronic band structure of Fe,co,and Ni.In the present work,we refine the method by combining GT with the GW self-energy.The resulting GWT spectral functions exhibit strong lifetime effects and emergent dispersion anomalies.They are in an overall better agreement with experimental spectra than those obtained with GW or GT alone,even showing partial improvements over local-spin-density approximation dynamical mean-field theory.The performed analysis provides a basis for applying the GWT technique to a wider class of magnetic materials.

关键词： materials theory infinitely

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Long-term results of olecranon fractures treated using the XS nail? system

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中华创伤杂志(英文版) 2022年第6期25卷 336-344页

作者： H?chtl-Lee Leonard Spalteholz Matthias Raven Tim friedrich Moghaddam Arash Friedl Wilhelm Division of Orthopaedics and Trauma Surgery Rotkreuzklinik Wertheim GGmbH Wertheim Am Main Aschaffenburg Trauma and Orthopaedic Research Group center for Orthopaedics Trauma Surgery and Sports Medicine Hospital Aschaffenburg-Alzenau GGmbH Am Hasenkopf 1 Aschaffenburg Germany center for Orthopaedics and Trauma Surgery Leipzig

c>Purpose:c> Olecranon fractures are particularly vulnerable to distraction and subsequent fracture dislocation due to the high tensile forces. Surgical treatment aims at reducing the fracture and restoring the anatomical joint surface condition, as well as neutralizing the strain inhibiting fracture healing. The XS nail? (Intercus GmbH, Bad Blankenberg, Germany), an intramedullary implant exerting compression across the entire fracture surface, unlike plates, leaves a minimal extra-cortical profile, and can be secured with threaded locking wires, thereby retaining the anatomical reduction without displacement or steps within the articular surface, which was often found in tension band wiring. After encouraging initial results, the long-term outcome was assessed. c>Methods:c> This retrospective study evaluated the long-term outcome of patients surgically treated at our trauma center between January 2002 and December 2005 using the XS nail?. Patients over the age of 18 years eligible for the study must have undergone surgery for isolated, recent (less than 14 days) traumatic olecranon fractures, without concomitant injuries to the ipsilateral elbow and forearm. Further exclusion criteria were pseudarthrosis, re-fractures and osteotomy for distal humerus surgery, as well as polytraumatized patients unable to aid in their own recovery. Data were retrospectively gathered by standardised questionnaire and patient records, as well as surgery and anesthesiology reports. Data analysis was performed using Microsoft Office Excel? 2016. c>Results:c> There were 32 patients, 13 males (mean age 49.0 years) and 19 females (mean age 68.9 years) with 11 Schatzkers type D, 7 each type A and c, 5 type B and 2 type E at an average of 55.2 months, all showing complete consolidation. Of them, 6 patients had a loss of range of motion with more than 10° in the sagittal plane, and only 1 patient exceeded 10° reduction of supination. Twenty-five patients reported being pain-f

关键词： Olecranon fracture Intramedullary nail Treatment DASH XS nail

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Effect of the desolventizing/toasting process on chemical composition and protein quality of rapeseed meal

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Journal of Animal Science and Biotechnology 2017年第1期8卷 205-216页

作者： Rainer Mosenthin Ulrike Messerschmidt Nadja Sauer Patrick carre Alain Quinsac friedrich Schone University of Hohenheim Institute of Animal Science Emil-Wolff Strasse 10 Stuttgart 70599 Germany KWS SAAT SE Grimsehlstrasse 31 Einbeck 37555 Germany Landwirtschaftliche Untersuchungs- und Forschungsanstalt Speyer Obere Langgasse 40 Speyer 67346 Germany OLEAD 11 rue Monge Parc Industriel Pessac 33600 France Terres Inovia 11 rue Monge Parc Industriel Pessac 33600 France Thuringian State Institute of Agriculture Naumburger Strasse 98 Jena 07743 Germany

Background： During processing in a desolventizer/toaster（DT）, rapeseed meal（RSM） is heated to evaporate the hexane and to reduce the level of heat-labile anti-nutritional factors such as glucosinolates（GSL）. However, excessive heat treatment may reduce amino acid（AA） content in addition to lower AA digestibility and availability in RSM. The objective of the present study was to produce from one batch of a 00-rapeseed variety（17 μmol GSL/g dry matter（DM）, seed grade quality） five differently processed RSM under standardized and defined conditions in a pilot plant,and to determine the impact of these different treatments on protein solubility and chemical composition, in particular with regard to contents of AA including reactive Lys（rL ys） and levels of total and individual GSL.Methods： Four RSM were exposed to wet toasting conditions（WetT c） with increasing residence time in the DT of 48,64, 76, and 93 min. A blend of these four RSM was further processed, starting with saturated steam processing（〈 100 °c）and followed by exposure to dry toasting conditions（DryT c） to further reduce the GSL content in this RSM.Results： The contents of neutral detergent fiber and neutral detergent fiber bound crude protein（cP） increased linearly（P 〈 0.05）, as residence time of RSM in the DT increased from 48 to 93 min, whereas contents of total and most individual GSL and those of Lys, rL ys, cys, and the calculated ratio of Lys：cP and r Lys：cP decreased linearly（P ≤ 0.05）.The combination of wet heating and DryT c resulted in the lowest GSL content compared to RSM produced under WetT c, but was associated with lowest protein solubility.conclusions： It can be concluded that by increasing residence time in the DT or using alternative processing conditions such as wet heating combined with DryT c, contents of total and individual GSL in RSM can be substantially reduced.Further in vivo studies are warranted to elucidate if and to which extent the observed differences in protein quality and GSL content between RSM may affect digestibilit

关键词： Anti-nutritional factor Glucosinolate Processing Protein quality Rapeseed meal

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