31,461 results match your criteria Hair Anatomy


DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Eur J Hum Genet 2019 Mar 15. Epub 2019 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

DPH1variants have been associated with an ultra-rare and severe neurodevelopmental disorder, mainly characterized by variable developmental delay, short stature, dysmorphic features, and sparse hair. We have identified four new patients (from two different families) carrying novel variants in DPH1, enriching the clinical delineation of the DPH1 syndrome. Using a diphtheria toxin ADP-ribosylation assay, we have analyzed the activity of seven identified variants and demonstrated compromised function for five of them [p. Read More

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http://dx.doi.org/10.1038/s41431-019-0374-9DOI Listing

Antarctophthirus microchir infestation in synanthropic South American sea lion (Otaria flavescens) males diagnosed by a novel non-invasive method.

Parasitol Res 2019 Mar 14. Epub 2019 Mar 14.

Institute of Parasitology, Biomedical Research Center Seltersberg (BFS), Justus Liebig University Giessen, Schubertstr. 81, 35392, Giessen, Germany.

Antarctophthirus microchir is a sucking louse species belonging to the family Echinophthiriidae and has been reported to parasitize all species of the subfamily Otariinae, the sea lions. Former studies on this ectoparasite mainly required fixation, immobilization, or death of host species and especially examinations of adult male sea lions are still very rare. Between March and May 2018, adult individuals of a unique "urban" bachelor group of South American sea lions (Otaria flavescens) living directly in the city of Valdivia, Chile, were studied regarding their ectoparasite infestation status. Read More

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http://link.springer.com/10.1007/s00436-019-06273-2
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http://dx.doi.org/10.1007/s00436-019-06273-2DOI Listing
March 2019
1 Read

The morphology, size and density of the touch dome in human hairy skin by scanning electron microscopy.

Microscopy (Oxf) 2019 Mar 12. Epub 2019 Mar 12.

Microscopic Anatomy, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan.

The touch domes of mammalian hairy skin are mechanoreceptors characterized by the accumulation of Merkel cell-neurite complexes at the epidermal base. In this study, we examined the shape, size, and density of the touch dome of human skin of the forearm and the abdomen through scanning electron microscopy (SEM). Human skin samples were obtained from donated bodies, as well as a patient who underwent biopsy. Read More

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http://dx.doi.org/10.1093/jmicro/dfz001DOI Listing

Methodological and statistical questions regarding a study on hair nickel and chromium.

Authors:
Vahid Rakhshan

Acta Odontol Scand 2019 Apr;77(3):232-234

a Department of Anatomy , Azad University of Medical Sciences , 22 Behrouzi Alley, Kargar St., Tehran 14188-36783 , Iran.

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http://dx.doi.org/10.1080/00016357.2018.1551572DOI Listing

Evaluation of the ocular surface characteristics and Demodex infestation in paediatric and adult blepharokeratoconjunctivitis.

BMC Ophthalmol 2019 Mar 7;19(1):67. Epub 2019 Mar 7.

Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Xuhui District, Shanghai, 200031, China.

Background: To evaluate the ocular surface characteristics and the infestation of Demodex in Chinese paediatric and adult blepharokeratoconjunctivitis (BKC).

Methods: Fifty consecutive patients with BKC and 50 age- and sex-matched healthy subjects were enrolled. Lid margin characteristics and corneal disorders were evaluated under slit-lamp illumination. Read More

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http://dx.doi.org/10.1186/s12886-019-1074-5DOI Listing
March 2019
1 Read

Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.

Hear Res 2019 Apr 22;375:14-24. Epub 2019 Feb 22.

Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, UT, 84132, USA; Department of Neurobiology and Anatomy, University of Utah, Salt Lake City, UT, 84132, USA; Department of Otolaryngology Head and Neck Surgery, University of Utah, Salt Lake City, UT, 84132, USA. Electronic address:

Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. However, mutations in most USH causative genes lead to other diseases, such as hearing loss only or vision loss only. The molecular mechanisms underlying the variable disease manifestations associated with USH gene mutations are unclear. Read More

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http://dx.doi.org/10.1016/j.heares.2019.02.007DOI Listing
April 2019
1 Read

GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity.

Curr Biol 2019 Mar 28;29(6):921-934.e4. Epub 2019 Feb 28.

The Jackson Laboratory, Bar Harbor, ME 04609, USA; Department of Medicine, Tufts University, Boston, MA 02111, USA; Graduate School of Biomedical Science and Engineering (GSBSE), University of Maine, Orono, ME 04469, USA. Electronic address:

The transduction compartment of inner ear hair cells, the hair bundle, is composed of stereocilia rows of graded height, a property essential for sensory function that remains poorly understood at the molecular level. We previously showed that GPSM2-GNAI is enriched at stereocilia distal tips and required for their postnatal elongation and bundle morphogenesis-two characteristics shared with MYO15A (short isoform), WHRN, and EPS8 proteins. Here we first performed a comprehensive genetic analysis of the mouse auditory epithelium to show that GPSM2, GNAI, MYO15A, and WHRN operate in series within the same pathway. Read More

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http://dx.doi.org/10.1016/j.cub.2019.01.051DOI Listing

Expression level of prostaglandin D2 receptor 2 regulates hair regression.

J Invest Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Immunology, Kyungpook National University, Daegu, 41944, Korea. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X193013
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http://dx.doi.org/10.1016/j.jid.2019.02.012DOI Listing
February 2019
8 Reads

Light Microscopic Morphology of Indigenous Ghanaian African Hair from Scalp, Eyebrow, Axilla, and Pubic Regions.

Int J Trichology 2019 Jan-Feb;11(1):8-13

Department of Anatomy, School of Biomedical & Allied Health Sciences, College of Health Sciences, University of Ghana, Accra, Ghana.

Context: Relatively scanty literature on autochthonic African Negroid hair morphology provokes research interest for anthropological, forensic, and cosmetic purposes.

Aims: This study aimed to contribute basic morphological information on Ghanaian African hairs.

Settings And Design: The study was done in selected second-cycle schools in Accra, Ghana, using convenient sampling. Read More

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http://dx.doi.org/10.4103/ijt.ijt_70_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385518PMC

The histological prevalence and clinical implications of folliculotropism and syringotropism in mycosis fungoides.

Chin Clin Oncol 2019 Feb;8(1)

Department of Dermatology and Cutaneous Biology, Jefferson University Hospital, Philadelphia, PA, USA.

Background: Mycosis fungoides (MF), the most common form of cutaneous T-cell lymphoma, remains a challenge for clinicians to stage and manage. Classically, MF is determined through histopathologic evidence of a neoplastic infiltrate within the epidermis. In certain patients, however, the infiltrate extends into the hair follicles and sweat glands. Read More

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http://cco.amegroups.com/article/view/22933/22725
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http://dx.doi.org/10.21037/cco.2018.10.02DOI Listing
February 2019
6 Reads

Targeted Gene Delivery into the Mammalian Inner Ear Using Synthetic Serotypes of Adeno-Associated Virus Vectors.

Mol Ther Methods Clin Dev 2019 Jun 11;13:197-204. Epub 2019 Jan 11.

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea.

Targeting specific cell types in the mammalian inner ear is important for treating genetic hearing loss due to the different cell type-specific functions. Adeno-associated virus (AAV) is an efficient gene transfer vector, and it has demonstrated promise for treating genetic hearing loss. Although more than 100 AAV serotypes have been identified, few studies have investigated whether AAV can be distributed to specific inner ear cell types. Read More

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http://dx.doi.org/10.1016/j.omtm.2019.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374519PMC

Cisplatin exposure impairs ionocytes and hair cells in the skin of zebrafish embryos.

Aquat Toxicol 2019 Apr 13;209:168-177. Epub 2019 Feb 13.

Department of Life Science, School of Life Science, National Taiwan Normal University, Taipei 11677, Taiwan. Electronic address:

This study aimed to assess the sublethal effects of a platinum-based compound, cisplatin, using a zebrafish model. Zebrafish embryos were incubated in different concentrations of cisplatin at 0-96 h post-fertilization. Using a non-invasive, scanning ion-selective electrode technique (SIET), we measured the functions of hair cells (Ca influx) and ionocytes ([H] gradients). Read More

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http://dx.doi.org/10.1016/j.aquatox.2019.02.006DOI Listing
April 2019
2 Reads

Parameterization of proximal humerus locking plate impingement with in vitro, in silico, and in vivo techniques.

J Shoulder Elbow Surg 2019 Feb 13. Epub 2019 Feb 13.

Biedermann Laboratory for Orthopaedic Research, Department of Orthopaedic Surgery, University of Pennsylvania, Philadelphia, PA, USA.

Background: Locked plating of displaced proximal humeral fractures is common, but rates of subacromial impingement remain high. This study used a multidisciplinary approach to elucidate the relationships between common surgical parameters, anatomic variability, and the likelihood of plate impingement.

Methods: The experiment was completed in 3 phases. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10582746183089
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http://dx.doi.org/10.1016/j.jse.2018.11.062DOI Listing
February 2019
1 Read
2.289 Impact Factor

Variant in Central Centrifugal Cicatricial Alopecia.

N Engl J Med 2019 02 13;380(9):833-841. Epub 2019 Feb 13.

From the Department of Dermatology (L.M., O.S., A.P., M.P., E.W., L.S., V.B., J.M., E.S.) and the Institute of Pathology (A.G.), Tel Aviv Medical Center, the Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine (L.M., A.P., J.M., E.S.), and the Department of Cell and Developmental Biology (O.I., T.R., N.S.), Tel Aviv University, Tel Aviv, and the Schulich Faculty of Chemistry, Technion, Haifa (N.A.) - all in Israel; the Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany (M.-T.R., R.C.B.); L'Unité Différenciation Epitheliale et Autoimmunité Rhumatoïde (UDEAR), INSERM, Université Paul Sabatier, Université de Toulouse Midi-Pyrénées, Toulouse, France (M.-C.M., M.S.); the Department of Dermatology, Wake Forest Baptist Medical Center, Winston-Salem, NC (L.U., A.M.); and the Dermatology Department, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa (N.C.D).

Background: Central centrifugal cicatricial alopecia (CCCA) is the most common form of scarring alopecia among women of African ancestry. The disease is occasionally observed to affect women in families in a manner that suggests an autosomal dominant trait and usually manifests clinically after intense hair grooming. We sought to determine whether there exists a genetic basis of CCCA and, if so, what it is. Read More

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http://www.nejm.org/doi/10.1056/NEJMoa1816614
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http://dx.doi.org/10.1056/NEJMoa1816614DOI Listing
February 2019
16 Reads

Eclipta prostrata promotes the induction of anagen, sustains the anagen phase through regulation of FGF-7 and FGF-5.

Pharm Biol 2019 Dec;57(1):105-111

a Division of Applied Medicine, School of Korean Medicine , Pusan National University , Yangsan-si , Republic of Korea.

Context: Eclipta prostrata L. (Asteraceae) (EP) has been widely used for the treatment of skin disease in Asian traditional medicine.

Objective: This study investigates the potency of EP in promoting hair growth in vivo and in vitro. Read More

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http://dx.doi.org/10.1080/13880209.2018.1561729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374973PMC
December 2019
1 Read

The protective role of ferulic acid against cisplatin-induced ototoxicity.

Int J Pediatr Otorhinolaryngol 2019 Feb 4;120:30-35. Epub 2019 Feb 4.

Department of Otolaryngology-Head and Neck Surgery, Chosun University College of Medicine, Gwangju, South Korea. Electronic address:

Objectives: While cisplatin is an effective chemotherapeutic agent, it can cause irreversible hearing loss. Ototoxicity leads to dose reduction during the cisplatin chemotherapy and results in inadequate treatment of malignant tumors. This study aimed to investigate the protective effects of ferulic acid on cisplatin-induced ototoxicity. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876193006
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http://dx.doi.org/10.1016/j.ijporl.2019.02.001DOI Listing
February 2019
8 Reads

Computer-Aided Facial Reconstruction of "Mary-Magdalene" Relics Following Hair and Skull Analyses.

Clin Med Insights Ear Nose Throat 2019 14;12:1179550618821933. Epub 2019 Jan 14.

UVSQ (DANTE Laboratory EA 4498), UFR of Health Sciences, Montigny-Le-Bretonneux, France.

The supposed relics of "Mary-Magdalene" are preserved in Provence (France) in an ancient tradition. They consist of a dry skull and a lock of hair. For the first time, they were officially subjected to an extensive medico-surgical examination by photogrammetry, high-magnification binocular lenses, scanning electron microscope, and energy-dispersive X-ray elemental analysis, to propose a full computer-aided facial reconstruction. Read More

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http://dx.doi.org/10.1177/1179550618821933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343449PMC
January 2019
4 Reads

Follicular vitiligo: dermatoscopic features of a new subtype of vitiligo.

An Bras Dermatol 2019 Jan-Feb;94(1):120-121

Department of Dermatology, Clínica Alemana, Universidad del Desarrollo, Santiago, Chile.

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http://dx.doi.org/10.1590/abd1806-4841.20198086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360965PMC

Follicular psoriasis: an underdiagnosed entity?

An Bras Dermatol 2019 Jan-Feb;94(1):116-118

Department of Dermatology, Hospital do Servidor Público do Estado de São Paulo, São Paulo (SP), Brazil.

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http://dx.doi.org/10.1590/abd1806-4841.20197987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360968PMC
March 2019
2 Reads

TGF-β and HSP70 profiles during transformation of yak hair follicles from the anagen to catagen stage.

J Cell Physiol 2019 Feb 5. Epub 2019 Feb 5.

Laboratory of Animal Anatomy & Tissue Embryology, Department of Basic Veterinary Medicine, Faculty of Veterinary Medicine, Gansu Agricultural University, Lanzhou, China.

Transforming growth factor-β (TGF-β) and heat shock protein 70 (HSP70) are important for the hair follicle (HF) cycle, but it is unclear whether they participate in HF regression in yak skin. In this study, we investigated the role of TGF-β, TGF-βRII, and HSP70 in the transition from anagen to catagen of HFs. The results showed that TGF-β2 transcription was significantly higher than that of TGF-β1 and TGF-β3 in the same periods. Read More

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http://dx.doi.org/10.1002/jcp.28212DOI Listing
February 2019
1 Read

OSBP-related protein 2 (ORP2): Unraveling its functions in cellular lipid/carbohydrate metabolism, signaling and F-actin regulation.

J Steroid Biochem Mol Biol 2019 Feb 2. Epub 2019 Feb 2.

Minerva Foundation Institute for Medical Research, Biomedicum 2U, FI-00290, Helsinki, Finland; Department of Anatomy, Faculty of Medicine, FI-00014, University of Helsinki, Finland.

Oxysterol-binding protein (OSBP)-related proteins (ORPs) constitute a family of intracellular lipid-binding/transport proteins (LTPs) in eukaryotes. They typically have a modular structure comprising a lipid-binding domain and membrane targeting determinants, being thus suited for function at membrane contact sites. Among the mammalian ORPs, ORP2/OSBPL2 is the only member that only exists as a 'short' variant lacking a membrane-targeting pleckstrin homology domain. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09600760183076
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http://dx.doi.org/10.1016/j.jsbmb.2019.01.016DOI Listing
February 2019
5 Reads

Pharyngeal hairy polyps: Case series and literature review.

Medicine (Baltimore) 2019 Feb;98(5):e14305

It was aimed to report 5 cases of pharyngeal hairy polyps, and to summarize the characteristics combined with literature review.Five cases with pathological diagnosis of pharyngeal hair polyps were diagnosed and treated in our department from June, 2006 to October, 2016, and retrospective analysis of their clinical data was performed. Among the 5 cases, there were 1 male and 4 female, with the age of 2 days to 26 months old. Read More

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http://dx.doi.org/10.1097/MD.0000000000014305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380718PMC
February 2019
5.723 Impact Factor

Extending the Mathematical Palette for Developmental Pattern Formation: Piebaldism.

Bull Math Biol 2019 Jan 28. Epub 2019 Jan 28.

Anatomy, Section of Medicine, University of Fribourg, Route Albert-Gockel 1, 1700, Fribourg, Switzerland.

Here, we present a theoretical investigation with potential insights on developmental mechanisms. Three biological factors, consisting of two diffusing factors and a cell-autonomous immobile transcription factor are combined with different feedback mechanisms. This results in four different situations or fur patterns. Read More

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http://dx.doi.org/10.1007/s11538-019-00569-1DOI Listing
January 2019
1 Read

AAV2.7m8 is a powerful viral vector for inner ear gene therapy.

Nat Commun 2019 01 25;10(1):427. Epub 2019 Jan 25.

Neurotology Program, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health, Bethesda, MD, 20892, USA.

Adeno-associated virus (AAV) has been successfully used to deliver gene therapy to improve auditory function in mouse models of hereditary hearing loss. Many forms of hereditary hearing loss have mutations which affect the cochlear hair cells, the mechanosensory cells which allow for sound detection and processing. While most conventional AAVs infect inner hair cells (IHCs) with various efficiencies, they infect outer hair cells (OHCs) and supporting cells at lower levels in the cochlea. Read More

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http://dx.doi.org/10.1038/s41467-018-08243-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347594PMC
January 2019
8 Reads

Ectopic Sebaceous Glands in the Hair Follicle Matrix: Case Reports and Literature Review of this Embryogenic Anomaly.

Cureus 2018 Nov 17;10(11):e3605. Epub 2018 Nov 17.

Dermatology, San Diego Family Dermatology, San Diego, USA.

Hair embryogenesis is a complex process. The development of this skin appendage originates from both ectoderm and mesoderm layers. Multiple signaling pathways and regulation are required for proper hair formation. Read More

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http://dx.doi.org/10.7759/cureus.3605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338400PMC
November 2018

Characterization of the early pathology of cochlear stereocilia in four inbred mouse strains with progressive hearing loss.

Histol Histopathol 2019 Jan 24:18086. Epub 2019 Jan 24.

Key Laboratory for Genetic Hearing Disorders in Shandong, Binzhou Medical University, Yantai, Shandong, P.R. China.

Objective: Inbred strains of mice offer promising models for understanding the genetic basis of age-related hearing loss (AHL). NOD/LtJ, A/J, DBA/2J and C57BL/6J mice are classical models of age-related hearing loss and exhibit early onset of pathology of AHL. This study was carried out to characterize the early pathology of cochlear stereocilia in the four mouse strains with age-related hearing loss. Read More

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http://dx.doi.org/10.14670/HH-18-086DOI Listing
January 2019
2 Reads

Epithelial expression of the hormone leptin by bovine skin.

Eur J Histochem 2019 Jan 17;63(1). Epub 2019 Jan 17.

University of Perugia, Department of Veterinary Medicine.

Leptin (Lep) stimulates keratinocytes to proliferate, intervenes in the wound healing and participates to hair follicle morphogenesis and cycle. While it is secreted by skin structures including epidermis and hair follicles, intradermal adipose tissue also seems to have a role in Lep secretion and accordingly in the control of hair follicle growth in mice and humans. Lep was investigated in the skin of humans and laboratory animals but there are not data regarding bovine species. Read More

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http://dx.doi.org/10.4081/ejh.2019.2993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340309PMC
January 2019
1 Read

Attraction of the sandfly Lutzomyia longipalpis to possible biomarker compounds from dogs infected with Leishmania infantum.

Med Vet Entomol 2019 Jan 16. Epub 2019 Jan 16.

Laboratory of Veterinary Infectious Diseases, Teaching Hospital of Veterinary Medicine, Federal University of Bahia (UFBA), Salvador, BA, Brazil.

Lutzomyia longipalpis (Diptera: Psychodidae) is the primary vector of Leishmania infantum (Kinetoplastida: Trypanosomatidae) in the Americas. Studies have been carried out to identify new alternatives for monitoring and controlling this sandfly species, particularly with the use of chemical baits. The attractiveness of odours emitted by foxes and alcohols found in some plants has already been demonstrated in laboratory tests with Lu. Read More

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http://dx.doi.org/10.1111/mve.12357DOI Listing
January 2019

Histological and functional comparisons of four anatomical regions of porcine skin with human abdominal skin.

Anat Histol Embryol 2019 Jan 16. Epub 2019 Jan 16.

Department of Veterinary Medicine, Institute for Veterinary Anatomy, Freie Universität Berlin, Berlin, Germany.

Because of the shortage of human skin for research purposes, porcine skin has been used as a model of human skin. The aim of this study was to identify the region of German Landrace pig skin that could be used as the best possible substitute for human abdominal skin. Porcine samples were collected from the ear, flank, back and caudal abdomen; human abdominal skin samples were excised during plastic surgery. Read More

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http://dx.doi.org/10.1111/ahe.12425DOI Listing
January 2019
1 Read

Correction to: Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.

Mol Neurobiol 2019 Mar;56(3):2300

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 41566, Republic of Korea.

The original article contains an error for a grant number in the Acknowledgements section. Read More

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http://dx.doi.org/10.1007/s12035-019-1470-0DOI Listing
March 2019
2 Reads

Degeneration of saccular hair cells caused by MITF gene mutation.

Neural Dev 2019 01 11;14(1). Epub 2019 Jan 11.

Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science, Chinese PLA Medical School, Beijng, China.

Background: Waardenburg syndrome (WS) is the consequence of an inherited autosomal dominant mutation which causes the early degeneration of intermediate cells of cochlear stria vascularis (SV) and profound hearing loss. Patients with WS may also experience primary vestibular symptoms. Most of the current WS studies did not discuss the relationship between WS and abnormal vestibular function. Read More

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https://neuraldevelopment.biomedcentral.com/articles/10.1186
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http://dx.doi.org/10.1186/s13064-019-0126-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330439PMC
January 2019
7 Reads

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

BMC Gastroenterol 2019 Jan 11;19(1). Epub 2019 Jan 11.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan.

Background: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Read More

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https://bmcgastroenterol.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12876-019-0929-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123PMC
January 2019
12 Reads

Premature aging and cancer development in transgenic mice lacking functional CYLD.

Aging (Albany NY) 2019 Jan;11(1):127-159

Molecular Oncology Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)/CIBERONC, Madrid 28040, Spain.

CYLD is a deubiquitinating enzyme known for its role as a tumor suppressor whose mutation leads to skin appendages tumors and other cancers. In this manuscript we report that the tumor suppressor CYLD, similarly to other renowned tumor suppressor genes, protects from premature aging and cancer. We have generated transgenic mice expressing the mutant CYLD protein, lacking its deubiquitinase function, under the control of the keratin 5 promoter, the K5-CYLD mice. Read More

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http://www.aging-us.com/article/101732/text
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http://dx.doi.org/10.18632/aging.101732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339805PMC
January 2019
10 Reads
6.432 Impact Factor

Avocado Oil Extract Modulates Auditory Hair Cell Function through the Regulation of Amino Acid Biosynthesis Genes.

Nutrients 2019 Jan 8;11(1). Epub 2019 Jan 8.

Department of Oriental Medicine Biotechnology, College of Life Sciences and Graduate School of Biotechnology, Kyung Hee University, Global Campus, Gyeonggi 17104, Korea.

Sensorineural hearing loss (SNHL) is one of the most common causes of disability, affecting over 466 million people worldwide. However, prevention or therapy of SNHL has not been widely studied. Avocado oil has shown many health benefits but it has not yet been studied in regards to SNHL. Read More

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http://www.mdpi.com/2072-6643/11/1/113
Publisher Site
http://dx.doi.org/10.3390/nu11010113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356572PMC
January 2019
7 Reads
3.148 Impact Factor

Norgalanthamine Stimulates Proliferation of Dermal Papilla Cells via Anagen-Activating Signaling Pathways.

Biol Pharm Bull 2019 ;42(1):139-143

Department of Medicine, School of Medicine, Jeju National University.

Norgalanthamine has been shown to possess hair-growth promoting effects, including increase in hair-fiber length in cultured rat vibrissa follicles and increase in dermal papilla cell (DPC) proliferation. However, the intracellular mechanisms that underlie the action of norgalanthamine in DPCs have not been investigated. In this study, we addressed the ability of norgalanthamine to trigger anagen-activating signaling pathways in DPCs. Read More

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https://www.jstage.jst.go.jp/article/bpb/42/1/42_b18-00226/_
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http://dx.doi.org/10.1248/bpb.b18-00226DOI Listing
January 2019
7 Reads
1.778 Impact Factor

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.

Medicine (Baltimore) 2018 Dec;97(52):e13758

Department of Gastroenterology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, P.R. China.

Rationale: The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrolase (SGSH) in 1 pedigree.

Patient Concerns: An 8-year-old female patient presented with developmental regression, seizures, cerebral atrophy, thickened calvarial diploe, apathy, esotropia, slender build, thick hair, prominent eyebrows, hepatomegaly, ankle clonus, muscle and joint contractures, and funnel chest.

Diagnoses: The patient was diagnosed as autosomal recessive (AR) MPS IIIA with a novel mutation in the SGSH gene. Read More

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http://Insights.ovid.com/crossref?an=00005792-201812280-0002
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http://dx.doi.org/10.1097/MD.0000000000013758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314651PMC
December 2018
10 Reads

Hair tourniquet syndrome on the toe and labia.

Pediatr Int 2018 Dec;60(12):1095-1096

Division of Pediatric Emergency Medicine, Department of Pediatric Emergency and Critical Care Medicine, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

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http://doi.wiley.com/10.1111/ped.13712
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http://dx.doi.org/10.1111/ped.13712DOI Listing
December 2018
3 Reads

The role of lysophosphatidic acid in the physiology and pathology of the skin.

Life Sci 2019 Mar 22;220:194-200. Epub 2018 Dec 22.

Department of Dermatology, Xiangya Hospital, Central South University, Changsha 410008, China; Hunan Key Laboratory of Skin Cancer and Psoriasis, Xiangya Hospital, Central South University, Changsha 410008, China; Hunan Engineering Research Center of Skin Health and Disease, Xiangya Hospital, Central South University, Changsha 410008, China. Electronic address:

Lysophosphatidic acid (LPA) is the simplest phospholipid found in nature. LPA is mainly biosynthesized in tissues and cells by autotoxin and PA-PLA1α/PA-PLA1β and is degraded by lipid phosphate phosphatases (LPPs). It is an important component of biofilm, an extracellular signal transmitter and intracellular second messenger. Read More

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http://dx.doi.org/10.1016/j.lfs.2018.12.040DOI Listing
March 2019
5 Reads
2.702 Impact Factor

Regional skin histomorphology in adult greater cane rats (): A pilot study.

Int J Vet Sci Med 2018 Dec 16;6(2):219-226. Epub 2018 Nov 16.

Department of Veterinary Pathology, University of Ibadan, Ibadan, Nigeria.

The greater cane rat () demonstrated numerous dermal architectural peculiarities hitherto unreported. This investigation assessed and evaluated certain histologic features of skin samples from the fore and hind limbs, the neck, head, proximal to the ear and oro-nasal regions for follicular evaluations and micro anatomic assessments in the adult species. Twenty wild taken animals of equal gender distribution were used for histologic assessments of structural elements and histo-morphometric evaluations. Read More

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http://dx.doi.org/10.1016/j.ijvsm.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286415PMC
December 2018

Tectorigenin, a Flavonoid-Based Compound of Leopard Lily Rhizome, Attenuates UV-B-Induced Apoptosis and Collagen Degradation by Inhibiting Oxidative Stress in Human Keratinocytes.

Nutrients 2018 Dec 17;10(12). Epub 2018 Dec 17.

Department of Life and Nanopharmaceutical Sciences, Graduates School, Kyung Hee University, 26 Kyungheedae-ro, Dongdaemun-gu, Seoul 02447, Korea.

Ultraviolet (UV) light, a major risk factor for external skin photoaging, induces oxidative stress in skin. UV causes a breakdown of skin homeostasis by impairing the extracellular matrix and inducing cell death. Tectorigenin, a constituent of leopard lily ( L. Read More

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http://www.mdpi.com/2072-6643/10/12/1998
Publisher Site
http://dx.doi.org/10.3390/nu10121998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316707PMC
December 2018
7 Reads

A case of focal facial dermal dysplasia type 4.

Pediatr Dermatol 2019 Jan 18;36(1):e58-e59. Epub 2018 Dec 18.

Medway NHS Foundation Trust, Gillingham, UK.

We present a rare case of focal facial dermal dysplasia type 4 (FFDD4) in an otherwise healthy boy infant, presenting as bilateral preauricular scarlike defects surrounded by a hair collar, resembling membranous aplasia cutis congenita. The presence of a hair collar supports the hypothesis that FFDD is caused by abnormal closure at facial embryonic fusion lines, but unlike midline scalp defects is not associated with neurological compromise. Other types of FFDD occur at different sites and can be associated with cranial dysgraphism. Read More

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http://dx.doi.org/10.1111/pde.13730DOI Listing
January 2019
2 Reads

The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss.

J Cell Sci 2019 Jan 16;132(2). Epub 2019 Jan 16.

Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario N6A 5C1, Canada

Mutations in the genes that encode the gap junction proteins connexin 26 (Cx26, encoded by ) and Cx30 () are the leading cause of hereditary hearing loss. That said, the Cx30 p.Ala88Val (A88V) mutant causes Clouston syndrome, but not hearing loss. Read More

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http://dx.doi.org/10.1242/jcs.224097DOI Listing
January 2019
3 Reads

Description and characterization of a hair coat disorder in schipperkes.

Vet Dermatol 2019 Feb 17;30(1):36-e10. Epub 2018 Dec 17.

Department of Biomedical and Diagnostic Sciences, UT College of Veterinary Medicine, University of Tennessee, 2407 River Drive, Knoxville, TN, 37996, USA.

Background: Schipperkes develop bilaterally symmetrical alopecia preceded by lightening of the hair coat not associated with systemic clinical signs. The alopecia is presumptively diagnosed as Alopecia X but has never been investigated.

Hypothesis/objectives: The purpose of this study was to describe clinical features, histopathological and laboratory abnormalities associated with symmetrical, noninflammatory alopecia in schipperkes. Read More

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http://dx.doi.org/10.1111/vde.12711DOI Listing
February 2019
2 Reads

Bone marrow-derived epithelial cells and hair follicle stem cells contribute to development of chronic cutaneous neoplasms.

Nat Commun 2018 12 13;9(1):5293. Epub 2018 Dec 13.

Department of Pathology and Cell Biology, Columbia University, New York, 10032, NY, USA.

We used allogeneic bone marrow transplantation (BMT) and a mouse multistage cutaneous carcinogenesis model to probe recruitment of bone marrow-derived epithelial cells (BMDECs) in skin tumors initiated with the carcinogen, dimethylbenz[a]anthracene (DMBA), and promoted with 12-O-tetradecanolyphorbol-13-acetate (TPA). BMDECs clustered in the lesional epithelium, expressed cytokeratins, proliferated, and stratified. We detected cytokeratin induction in plastic-adherent bone marrow cells (BMCs) cultured in the presence of filter-separated keratinocytes (KCs) and bone morphogenetic protein 5 (BMP5). Read More

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http://www.nature.com/articles/s41467-018-07688-8
Publisher Site
http://dx.doi.org/10.1038/s41467-018-07688-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294255PMC
December 2018
21 Reads

Tissue engineering of human hair follicles using a biomimetic developmental approach.

Nat Commun 2018 12 13;9(1):5301. Epub 2018 Dec 13.

Department of Dermatology, Columbia University Medical Center, New York, NY, 10032, USA.

Human skin constructs (HSCs) have the potential to provide an effective therapy for patients with significant skin injuries and to enable human-relevant drug screening for skin diseases; however, the incorporation of engineered skin appendages, such as hair follicles (HFs), into HSCs remains a major challenge. Here, we demonstrate a biomimetic approach for generation of human HFs within HSCs by recapitulating the physiological 3D organization of cells in the HF microenvironment using 3D-printed molds. Overexpression of Lef-1 in dermal papilla cells (DPC) restores the intact DPC transcriptional signature and significantly enhances the efficiency of HF differentiation in HSCs. Read More

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http://www.nature.com/articles/s41467-018-07579-y
Publisher Site
http://dx.doi.org/10.1038/s41467-018-07579-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294003PMC
December 2018
32 Reads
10.742 Impact Factor

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.

Nat Commun 2018 12 12;9(1):5075. Epub 2018 Dec 12.

Department of Medical and Molecular Genetics, School of Basic & Medical Biosciences, King's College London, London, SE1 9RT, UK.

Acne vulgaris is a highly heritable common, chronic inflammatory disease of the skin for which five genetic risk loci have so far been identified. Here, we perform a genome-wide association study of 3823 cases and 16,144 controls followed by meta-analysis with summary statistics from a previous study, with a total sample size of 26,722. We identify 20 independent association signals at 15 risk loci, 12 of which have not been previously implicated in the disease. Read More

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http://dx.doi.org/10.1038/s41467-018-07459-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290788PMC
December 2018
3 Reads