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https://www.readbyqxmd.com/read/28735299/identification-of-the-first-dominant-mutation-of-lama5-gene-causing-a-complex-multisystem-syndrome-due-to-dysfunction-of-the-extracellular-matrix
#1
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome. METHODS: A detailed characterisation of a three-generation family, including clinical, biochemical, instrumental and morphological analysis, together with genetics and expression (WES and RNAseq) studies, was performed...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28733486/%C3%AE-toxin-regulates-local-granulocyte-expansion-from-hematopoietic-stem-and-progenitor-cells-in-staphylococcus-aureus-infected-wounds
#2
Patrick C Falahee, Leif S Anderson, Mack B Reynolds, Mauricio Pirir, Bridget E McLaughlin, Carly A Dillen, Ambrose L Cheung, Lloyd S Miller, Scott I Simon
The immune response to Staphylococcus aureus infection in skin involves the recruitment of polymorphonuclear neutrophils (PMNs) from the bone marrow via the circulation and local granulopoiesis from hematopoietic stem and progenitor cells (HSPCs) that also traffic to infected skin wounds. We focus on regulation of PMN number and function and the role of pore-forming α-toxin (AT), a virulence factor that causes host cell lysis and elicits inflammasome-mediated IL-1β secretion in wounds. Infection with wild-type S...
July 21, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28732240/constitutive-transgene-expression-of-stem-cell-antigen-1-in-the-hair-follicle-alters-the-sensitivity-to-tumor-formation-and-progression
#3
Rikke Christensen, David M Owens, Annette C Füchtbauer, Anders Gunnarsson, Mette Ramsing, Ernst-Martin Füchtbauer, Uffe Birk Jensen
The cell surface protein Stem Cell Antigen-1 (Sca-1) marks stem or progenitor cells in several murine tissues and is normally upregulated during cancer development. Although the specific function of Sca-1 remains unknown, Sca-1 seems to play a role in proliferation, differentiation and cell migration in a number of tissues. In the skin epithelium, Sca-1 is highly expressed in the interfollicular epidermis but is absent in most compartments of the hair follicle; however, the function of Sca-1 in the skin has not been investigated...
July 8, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28730390/expression-of-type-i-cannabinoid-receptors-at-different-stages-of-neuronal-differentiation-of-human-fibroblasts
#4
M Yu Bobrov, V V Bezuglov, L G Khaspekov, S N Illarioshkin, E V Novosadova, I A Grivennikov
Differential expression of type 1 cannabinoid receptors (CR1) was evaluated at different stages of human skin fibroblast transformation into terminally differentiated neurons. Immunocytochemical staining detected no CR1 on fibroblasts, but their transformation into induced pluripotent stem cells was accompanied by marked stimulation of CR1 expression. In neuronal precursors, the receptors were located mainly on cell bodies and at the base of their processes. This distribution was retained at the terminal stage of differentiation of induced pluripotent stem cells into neurons...
July 21, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28727410/exosomes-mediate-epithelium-mesenchyme-crosstalk-in-organ-development
#5
Nan Jiang, Lusai Xiang, Ling He, Guodong Yang, Jinxuan Zheng, Chenglin Wang, Yimei Zhang, Sainan Wang, Yue Zhou, Tzong-Jen Sheu, Jiaqian Wu, Kenian Chen, Paulo G Coelho, Nicky M Tovar, Shin Hye Kim, Mo Chen, Yan-Heng Zhou, Jeremy J Mao
Organ development requires complex signaling by cells in different tissues. Epithelium and mesenchyme interactions are crucial for the development of the skin, hair follicles, kidney, lungs, prostate, major glands and the teeth. Despite myriad literature on cell-cell interactions and ligand-receptor binding, the roles extracellular vesicles in epithelium-mesenchyme interactions during organogenesis are poorly understood. Here, we discovered that ~100 nm exosomes were secreted by the epithelium and mesenchyme of a developing tooth organ, and diffused through the basement membrane...
July 20, 2017: ACS Nano
https://www.readbyqxmd.com/read/28725969/mastocytosis-from-a-molecular-point-of-view
#6
REVIEW
Daniel Elieh Ali Komi, Todd Rambasek, Stefan Wöhrl
Mast cells (MCs) are physiologically activated by binding of stem cell factor (SCF) to the extracellular domains of the Kit receptor. This binding increases the proliferation and prolongs the survival of normal mature MCs, as well as intensifies the release of mediators. In mastocytosis, somatic mutations of the coding Kit gene cause autocrine dysregulation and lead to constitutive KIT activation even in the absence of its ligand SCF. Clinical symptoms are caused by MC-mediator release and/or infiltration of MCs into tissues...
July 19, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28724445/sustained-benefit-from-combined-plasmapheresis-and-allogeneic-mesenchymal-stem-cells-transplantation-therapy-in-systemic-sclerosis
#7
Huayong Zhang, Jun Liang, Xiaojun Tang, Dandan Wang, Xuebing Feng, Fan Wang, Bingzhu Hua, Hong Wang, Lingyun Sun
BACKGROUND: Systemic sclerosis (SSc) is an autoimmune disease involving the skin and several internal organs. Most therapies available for this disease are symptomatic. Given the difficulty in treating SSc, we conducted this study to investigate the effect of combined plasmapheresis (PE) and allogeneic mesenchymal stem cells transplantation (MSCT) therapy on SSc. METHODS: Fourteen patients underwent three repeated PE treatments with subsequent pulse cyclophosphamide on days 1, 3 and 5...
July 19, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28720118/inhibiting-function-of-human-fetal-dermal-mesenchymal-stem-cells-on-bioactivities-of-keloid-fibroblasts
#8
Ya Jiao, Xiao Wang, Jixun Zhang, Yongjun Qi, Hongmin Gong, Duyin Jiang
BACKGROUND: Keloid is one kind of benign skin disease caused by hyperplasia of fibroblasts and collagen fibrils. It is refractory due to the lack of an effective treatment at present, which puts pressure on seeking a new therapeutic regimen. Mesenchymal stem cells (MSCs) from fetal skin are considered to play a crucial role in scarless healing. Nevertheless, the efficacy of them in keloid disorders remains poorly understood. METHODS: Keloid fibroblasts (KFs), human adult dermal fibroblasts (ADFs), and human fetal dermal mesenchymal stem cells (FDMSCs) were isolated to single cells and cultured in Dulbecco's modified Eagle's medium (DMEM)...
July 18, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28719093/bone-marrow-harvest-from-unrelated-donors-up-to-date-methodology
#9
Katarzyna Pruszczyk, Kamila Skwierawska, Małgorzata Król, Albert Moskowicz, Dariusz Jabłoński, Tigran Torosian, Iwona Piotrowska, Elżbieta Urbanowska, Wiesław Wiktor-Jędrzejczak, Emilian Snarski
OBJECTIVES: Bone marrow harvesting is one of the essential sources of stem cells for hematopoietic stem cell transplantation. We describe here the current "up to date" standard of the bone marrow harvest in unrelated stem cell donors. METHODS: We analyzed medical data of 187 unrelated hematopoietic stem cell donors who underwent bone marrow harvest without previous peripheral blood stem collection at the center between 2011 and 2015. The methodology of marrow collection includes multiple cells aimed at safety of the procedure e...
July 18, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28718448/neuronal-activity-in-ontogeny-and-oncology
#10
REVIEW
Humsa Venkatesh, Michelle Monje
The nervous system plays a central role in regulating the stem cell niche in many organs, and thereby pivotally modulates development, homeostasis, and plasticity. A similarly powerful role for neural regulation of the cancer microenvironment is emerging. Neurons promote the growth of cancers of the brain, skin, prostate, pancreas, and stomach. Parallel mechanisms shared in development and cancer suggest that neural modulation of the tumor microenvironment may prove a universal theme, although the mechanistic details of such modulation remain to be discovered for many malignancies...
February 2017: Trends in Cancer
https://www.readbyqxmd.com/read/28714022/platelet-poor-plasma-gel-combined-with-amnion-improves-the-therapeutic-effects-of-human-umbilical-cord%C3%A2-derived-mesenchymal-stem-cells-on-wound-healing-in-rats
#11
Lujun Yang, Jie Ma, Saiyang Gan, Shuli Chu, Martin Maldonado, Jianda Zhou, Lian Ma, Shijie Tang
The aim of the present study was to investigate the efficacy of human umbilical cord‑derived mesenchymal stem cell (HUMSCs) embedded in platelet poor plasma (PPP) gel combined with amnion (PPPA) in improving wound healing on Sprague‑Dawley (SD) rats. HUMSCs were cultured and labeled with chloromethylbenzamido‑1,1'‑dioctadecyl‑3,3,3'3'‑tetramethylindocarbocyanine perchlorate (CM‑DiI) on their third passage. The expression levels of growth factors of HUMSCs in PPPA were assessed by ELISA. Full‑thickness excisional skin wounds were induced in 36 male SD rats, which were treated with PPPA grafted with HUMSCs (PPPAC), PPPA, or HUMSC or PBS injection...
July 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28706856/disseminated-nocardia-cyriacigeorgia-causing-pancreatitis-in-a-haploidentical-stem-cell-transplant-recipient
#12
Jason Chen, Jonathan Pan, Joanne Filicko-O'Hara, Margaret Kasner, Phyllis Flomenberg
We report the first published case of acute pancreatitis secondary to disseminated nocardiosis in a hematopoietic stem cell transplant (HSCT) recipient on chronic immunosuppression for graft-versus-host disease (GVHD). Nocardiosis in the HSCT population is relatively rare, and has not yet been described in haploidentical HSCT recipients. Our patient is a 28-year-old male with a history of haploidentical HSCT and GVHD of the skin and lung who was admitted to the hospital with acute pancreatitis. The workup for the etiology of his pancreatitis was initially unrevealing...
2017: IDCases
https://www.readbyqxmd.com/read/28704726/bnip3-induction-by-hypoxia-stimulates-fasn-dependent-free-fatty-acid-production-enhancing-therapeutic-potential-of-umbilical-cord-blood-derived-human-mesenchymal-stem-cells
#13
Hyun Jik Lee, Young Hyun Jung, Gee Euhn Choi, So Hee Ko, Sei-Jung Lee, Sang Hun Lee, Ho Jae Han
Mitophagy under hypoxia is an important factor for maintaining and regulating stem cell functions. We previously demonstrated that fatty acid synthase (FASN) induced by hypoxia is a critical lipid metabolic factor determining the therapeutic efficacy of umbilical cord blood-derived human mesenchymal stem cells (UCB-hMSCs). Therefore, we investigated the mechanism of a major mitophagy regulator controlling lipid metabolism and therapeutic potential of UCB-hMSCs. This study revealed that Bcl2/adenovirus E1B 19kDa protein-interacting protein 3 (BNIP3)-dependent mitophagy is important for reducing mitochondrial reactive oxygen species accumulation, anti-apoptosis, and migration under hypoxia...
July 4, 2017: Redox Biology
https://www.readbyqxmd.com/read/28702186/the-biological-and-clinical-basis-for-the-use-of-adipose-derived-stem-cells-in-the-field-of-wound-healing
#14
REVIEW
Nicolò Bertozzi, Francesco Simonacci, Michele Pio Grieco, Eugenio Grignaffini, Edoardo Raposio
Worldwide, hard-to-heal lower limb wounds are estimated to affect 1.5-3% of the adult population with a treatment-related annual cost of $10 billion. Thus, chronic skin ulcers of the lower limb are a matter of economic and public concern. Over the years, multiple medical and surgical approaches have been proposed but they are still inadequate, and no effective therapy yet exists. Regenerative medicine and stem cell-based therapies hold great promise for wound healing. Recently, many plastic surgeons have studied the potential clinical application of adipose-derived stem cells (ASCs), which are a readily available adult stem cell population that can undergo multilineage differentiation and secrete growth factors that can enhance wound-healing processes by promoting angiogenesis, and hence increase local blood supply...
August 2017: Annals of Medicine and Surgery
https://www.readbyqxmd.com/read/28700664/systematic-screening-for-skin-hair-and-nail-abnormalities-in-a-large-scale-knockout-mouse-program
#15
John P Sundberg, Soheil S Dadras, Kathleen A Silva, Victoria E Kennedy, Gaven Garland, Stephen A Murray, Beth A Sundberg, Paul N Schofield, C Herbert Pratt
The International Knockout Mouse Consortium was formed in 2007 to inactivate ("knockout") all protein-coding genes in the mouse genome in embryonic stem cells. Production and characterization of these mice, now underway, has generated and phenotyped 3,100 strains with knockout alleles. Skin and adnexa diseases are best defined at the gross clinical level and by histopathology. Representative retired breeders had skin collected from the back, abdomen, eyelids, muzzle, ears, tail, and lower limbs including the nails...
2017: PloS One
https://www.readbyqxmd.com/read/28699668/poems-syndrome-2017-update-on-diagnosis-risk-stratification-and-management
#16
Angela Dispenzieri
DISEASE OVERVIEW: POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. Diagnoses are often delayed because the syndrome is rare and can be mistaken for other neurologic disorders, most commonly chronic inflammatory demyelinating polyradiculoneuropathy...
August 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28699278/regulatory-t-cells-in-skin
#17
REVIEW
Niwa Ali, Michael D Rosenblum
Foxp3+ CD4+ Regulatory T cells (Tregs) are a subset of immune cells that function to regulate tissue inflammation. Skin is one of the largest organs and is home to a large proportion of the body's Tregs. However, relative to other tissues (such as the spleen and gastrointestinal tract) the function of Tregs in skin is less well defined. Here, we review our understanding of how Tregs migrate to skin and the cellular and molecular pathways required for their maintenance in this tissue. In addition, we outline what is known about the specialized functions of Tregs in skin...
July 12, 2017: Immunology
https://www.readbyqxmd.com/read/28698625/ectodysplasin-target-gene-fgf20-regulates-mammary-bud-growth-and-ductal-invasion-and-branching-during-puberty
#18
Teresa Elo, Päivi H Lindfors, Qiang Lan, Maria Voutilainen, Ewelina Trela, Claes Ohlsson, Sung-Ho Huh, David M Ornitz, Matti Poutanen, Beatrice A Howard, Marja L Mikkola
Mammary gland development begins with the appearance of epithelial placodes that invaginate, sprout, and branch to form small arborized trees by birth. The second phase of ductal growth and branching is driven by the highly invasive structures called terminal end buds (TEBs) that form at ductal tips at the onset of puberty. Ectodysplasin (Eda), a tumor necrosis factor-like ligand, is essential for the development of skin appendages including the breast. In mice, Eda regulates mammary placode formation and branching morphogenesis, but the underlying molecular mechanisms are poorly understood...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28697472/protective-effects-of-grape-stem-extract-against-uvb-induced-damage-in-c57bl-mice-skin
#19
Denis Nchang Che, Guang Hua Xie, Byoung Ok Cho, Jae Young Shin, Hyun Ju Kang, Seon Il Jang
Humans have become exposed to another form of a trait which is ultraviolet B (UVB) radiation reaching the earth's surface. This has become a major source of oxidative stress that ultimately leads to inflammation, DNA damage, photoaging and pigmentation disorders etc. Although several studies have shown the photo-protective role of different grape parts like the fruits and seeds, little or no data demonstrating the in vivo photo-protective role of grape stem, which is the most discarded part of the grape are available...
June 29, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28697219/the-role-of-a-natural-mollusk-egg-derived-ingredient-in-facial-appearance
#20
Zoe Diana Draelos
<p>New cosmeceutical ingredients that improve skin appearance are of interest to the dermatologist. Cryptomphalus aspersa is a snail raised on farms in Spain for its mucinous secretions and eggs. These natural products have been demonstrated in vitro to trigger mesenchymal stem cell differentiation, promote dermal fibroblast and keratinocyte migration, prevent keratinocyte aging, prevent oxidative damage, stimulate the extracellular matrix, and regulate MMPs. This 12-week study enrolled 40 male and female subjects age 40-70 years of Fitzpatrick skin types I-IV with moderate to severe facial aging and Rao-Goldman scores of 4-5 who applied an eye and face anti-aging cream twice daily containing a mollusk egg extract...
July 1, 2017: Journal of Drugs in Dermatology: JDD
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