We have previously shown that the ubiquitously expressed lysosomal cysteine protease, cathepsin L (CTSL), is essential for skin and hair follicle homeostasis. Here we examine the effect of CTSL deficiency on hair follicle development and cycling in ctsl^?/? mice by light and electron microscopy, Ki67/terminal dUTP ...

Two recessive mutant alleles at CAN OF WORMS1 (COW1), a new locus involved in root hair morphogenesis, have been identified in Arabidopsis thaliana L. Heynh. Root hairs on Cow1- mutants are short and wide and occasionally formed as pairs at a single site of hair formation. The COW1 locus maps to chromosome 4. Root ...

Root hairs are an excellent model system to study cell developmental processes as they are easily accessible, single-celled, long tubular extensions of root epidermal cells. In a genetic approach to identify loci important for root hair development, we have isolated eight der (deformed root hairs) mutants from an ...

in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Causes There are many different types of ectodermal dysplasia. Many gene defects can...

a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. Among the most common...

Light microscopy of the hair forms an important bedside clinical tool for the diagnosis of various disorders affecting the hair. Hair abnormalities can be seen in the primary diseases affecting the hair or as a secondary involvement of hair in diseases affecting the scalp. ...

The transcription factor p63 plays an essential role in epidermal morphogenesis. Animals lacking p63 fail to form many ectodermal organs, including the skin and hair follicles. Although the indispensable role of p63 in stratified epithelial skin development is well established, relatively little is known about this transcriptional regulator in directing ...

Knowledge of the physiology of hair follicle growth and its relationship to the endocrine and the metabolic system is essential in understanding abnormalities in hair development or hirsutism. Although there is no sexual dysmorphism in the distribution of hair follicles, there are many factors ...

Root hairs are long tubular outgrowths that form on the surface of specialized epidermal cells. They are required for nutrient and water uptake and interact with the soil microflora. Here we show that the Oryza sativa cellulose synthase-like D1 (OsCSLD1) gene is required for root hair development, as rice (Oryza sativa) mutants that ...

The National Cancer Institute's Laboratory of Cell Biology is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize the use of DKK1 to treat abnormal pigmentation of the skin or to regulate hair growth.

with a pituitary tumor: Abnormal nipple discharge Absent menstruation (periods) Breast development in men Enlarged hands, feet Excessive body hair Facial changes Low blood...

A massive outbreak of methylmercury poisoning took place in the winter of 1971-1972 due to the consumption of homemade bread contaminated with a methylmercury fungicide. The longitudinal analysis of the mother's head hair, collected after delivery of the baby, provided a means of recapitulating exposure to methylmercury during pregnancy. Methylmercury is incorporated ...

A massive outbreak of methylmercury poisoning took place in the winter of 1971-1972 due to the consumption of homemade bread contaminated with a methylmercury fungicide. The longitudinal analysis of the mother's head hair, collected after delivery of the baby, provided a means of recapitulating exposure to methylmercury during pregnancy. Methylmercury is incorporated into ...

Few investigations on the histopathology of trichofolliculoma (TF) have so far included an immunohistochemical study. To seek new insight into TF with a revaluation of the histopathological features and an investigation of the immunohistochemical profile, 14 TFs were revaluated for the histopathology and the immunohistochemical profile of various cytokeratins (CKs), hair ...

Although perturbed lipid metabolism can often lead to skin abnormality, the role of phospholipase A(2) (PLA(2)) in skin homeostasis is poorly understood. In the present study we found that group X-secreted PLA(2) (sPLA(2)-X) was expressed in the outermost epithelium of hair follicles in synchrony with the anagen phase of hair cycling. ...

Gsdm is a newly found gene family, which is restricted in its expression to the gastrointestinal tract and the skin epithelium. As a main member of the Gsdma subfamily, Gsdma3 is expressed specifically in the hair follicle of mouse skin, but its function remains largely unclear. By hematoxylin and eosin staining, we showed that Gsdma3 gene mutation caused an ...

BackgroundNotch signaling involves ligand-receptor interactions through direct cell-cell contact. Multiple Notch receptors and ligands are expressed in the epidermis and hair follicles during embryonic development and the adult stage. Although Notch signaling plays an important role in regulating differentiation of the epidermis and ...

Notch-mediated lateral inhibition has been reported to regulate auditory hair cell and supporting cell development from common precursors. While the Notch effector genes Hes1, Hes5 and Hey1 are expressed in the developing cochlea, inactivation of either of them causes only mild abnormality, suggesting their ...

Dietary selenium is known to protect skin against UV-induced damage and cancer and its topical application improves skin surface parameters in humans, while selenium deficiency compromises protective antioxidant enzymes in skin. Furthermore, skin and hair abnormalities in humans and rodents may be caused by selenium deficiency, which are overcome by ...

Dietary selenium is known to protect skin against UV-induced damage and cancer and its topical application improves skin surface parameters in humans, while selenium deficiency compromises protective antioxidant enzymes in skin. Furthermore, skin and hair abnormalities in humans and rodents may be caused by selenium deficiency, which are overcome by ...

Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare disease caused by mutations in the vitamin D receptor (VDR). The consequence of defective VDR is the inability to absorb calcium normally in the intestine. This leads to a constellation of metabolic abnormalities including hypocalcemia, secondary hyperparathyroidism and hypophosphatemia that cause the ...

Alstr�m Syndrome is a life-threatening disease characterized primarily by numerous metabolic abnormalities, retinal degeneration, cardiomyopathy, kidney and liver disease, and sensorineural hearing loss. The cellular localization of the affected protein, ALMS1, has suggested roles in ciliary function and/or ciliogenesis. We have investigated the role of ALMS1 in the cochlea ...

Alopecia of a scalp shows various shapes and extents of hair loss, from a small round patch to polymorphous patches or total global alopecia. But alopecia of a linear shape is very rare. Only a few such cases have currently been reported in the medical literature. We recently had the chance to observe and treat two cases of linear alopecia that developed ...

A new method of estimating fetal exposure is used in a dose-response analysis of data from the 1971 outbreak of methyl mercury poisoning in rural Iraq. An X-ray fluorescence instrument for the measurement of single strands of human hair was employed to obtain longitudinal profiles recapitulating fetal exposure. Logit and hockey-stick models as well as nonparametric smoothing ...

Growing interest among several horse-breeder associations has initiated the development of a screening procedure to test for anabolic agents in hair, which has the advantage over blood and urine specimens of allowing long-term detection. An analytical method was established to monitor in tails or manes several anabolic substances available as veterinary ...

The in vivo functions of the activin A receptor type 1b (Acvr1b) have been difficult to study because Acvr1b(-/-) mice die during embryogenesis. To investigate the roles of Acvr1b in the epithelial tissues, we created mice with a conditional disruption of Acvr1b (Acvr1b(flox/flox)) and crossed them with K14-Cre mice. Acvr1b(flox/flox); K14-Cre mice displayed various degrees of hairlessness at ...

We sought components that function in morphogenetic events downstream from the segmentation pathway in Drosophila embryos, so we examined mutations that affect development of adult hairs and/or bristles to identify a subset that also affect hairs and denticles on the cuticle of first instar larvae. Mutations at 4 of 23 loci surveyed ...

... Title : Hair Loss Measurement Tool Development. Descriptive Note : Master's thesis,. ... The tool was used to assess the hair loss of nine patients. ...

... of the patient in preventing the development of septic ... This abnormality occurs ... studies concerning the mechanisms by which abnormalities of the ...

Controlled proteolytic degradation of specialized junctional structures, corneodesmosomes, by epidermal proteases is an essential process for physiological desquamation of the skin. Corneodesmosin (CDSN) is an extracellular component of corneodesmosomes and, although considerable debate still exists, genetic studies have suggested that the CDSN gene in the major psoriasis-susceptibility locus ...

MYOSIN XV is a motor protein that interacts with the PDZ domain-containing protein WHIRLIN and transports WHIRLIN to the tips of the stereocilia. Shaker 2 (sh2) mice have a mutation in the motor domain of MYOSIN XV and exhibit congenital deafness and circling behavior, probably because of abnormally short stereocilia. Whirler (wi) mice have a similar phenotype caused by a ...

BACKGROUND: Several forms of ichthyosis are associated with neurologic manifestations, including Sj�gren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. We report a case of X-linked steroid sulfatase deficiency, ichthyosis, seizures, abnormal hair banding pattern, and ...

Different alpha-tubulin cDNA sequences fused in an antisense orientation to a CaMV 35S promoter were introduced into Arabidopsis thaliana plants. Several independent transgenic lines that showed a moderate but clear reduction of alpha-tubulin gene expression (TUA6/AS lines) were obtained and phenotypically characterized. Although no apparent abnormalities were detected in the ...

GS is an uncommon autosomal recessive disorder characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regulation of the immune system. Childhood melanoma is rare in the pediatric population. The best prognosis is achieved with early diagnosis and definitive surgical excision of melanoma. We report a case of a patient ...

Hair follicle differentiation is regulated by multiple signaling pathways. However, the known cellular and molecular mechanisms are limited. Gsdma3 is a novel murine gene and considered to be a mutation hotspot. Six mutants have been reported in Gsdma3 and all these mutants exhibit hair loss and hyperkeratosis phenotypes. In order to verify how the lack of ...

of the epidermis from which the hair shaft develops and into which sebaceous glands open. The hair follicle is lined by a cellular inner and outer root sheath of...

Hoxc13 belongs to the Abd-B class of Hox gene family, which participated in the hair follicle formation and hair growth regulation process. The structural protein of hair KP (keratin) and KAP (keratin-associated protein) expression is under regulation of Hoxc13, and then changes the characteristics of hair by ...

Immunological, endocrinological, and haematological abnormalities are relatively common in people with Down syndrome (Cuadrado & Barrena, 1996; Decoq & Vincker, 1995; Hestnes et al., 1991; Sustrova & Strbak, 1994; Nespoli, Burgio, Ugazio & Maccario, 1993; Kempski, Chessells & Reeves, 1997; Kivivuori, Rajantie, & Siimes, 1996; David et al., 1996; ...

Insig-1 and Insig-2, two closely related proteins, are essential for feedback inhibition of cholesterol biosynthesis. Here, we characterized a line of epidermal-specific, Insig-double knockout (Epi-Insig-DKO) mice lacking both Insigs in epidermis. At birth, Epi-Insig-DKO mice were indistinguishable from control littermates, but thereafter they failed to thrive and died before 6 weeks of age. By 14 ...

The dermatology staff was called to evaluate abnormal hair on a 22-month-old Hispanic girl whose parents were first cousins. Her medical history was significant for leptomeningitis with subsequent neurologic devastation, gastroesophageal reflux disease, and recurrent respiratory infections. Her hospital course was complicated by sepsis, liver dysfunction, ...

Neonatal hair is a clinically important toxicological matrix, as it allows determination of in utero drug exposure. This paper serves to review the physiological development of the hair follicle and hair production during fetal life. An understanding of the mechanisms and timing of hair ...

The Notch signaling pathway is known to play important roles in inner ear development. Previous studies have shown that the Notch1 receptor and ligands in the Delta and Jagged families are important for cellular differentiation and patterning of the organ of Corti. Delta/notch-like epidermal growth factor (EGF)-related receptor (DNER) is a novel Notch ligand expressed in ...

The Notch signaling pathway is known to play important roles in inner ear development. Previous studies have shown that the Notch1 receptor and ligands in the Delta and Jagged families are important for cellular differentiation and patterning of the organ of Corti. Delta/notch-like epidermal growth factor (EGF)-related receptor (DNER) is a novel Notch ligand expressed in ...

The polycystic kidney disease-1 (Pkd1) gene encodes a large transmembrane protein (polycystin-1, or PC-1) that is reported to function as a fluid flow sensor in the kidney. As a member of the transient receptor potential family, PC-1 has also been hypothesized to play a role in the elusive mechanoelectrical transduction (MET) channel in inner ear hair cells. Here, we analyze ...

Hamartomas are composed of cells native to an organ but abnormal in number, arrangement, or maturity. In tuberous sclerosis complex (TSC), hamartomas develop in multiple organs due to mutations of TSC1 or TSC2. Here we show that TSC2-null fibroblast-like cells grown from human TSC skin hamartomas induced normal human keratinocytes to form ...

Hamartomas are composed of cells native to an organ but abnormal in number, arrangement or maturity. In the tuberous sclerosis complex (TSC), hamartomas develop in multiple organs because of mutations in TSC1 or TSC2. Here we show that TSC2-null fibroblast-like cells grown from human TSC skin hamartomas induced normal human keratinocytes to form ...

... to a minimum to limit breakage. Do you color, perm, or relax your hair? Dermatologists recommend that ... scalp) can develop. Do you let the sun color your hair? Excessive exposure to the sun can ...

growth. Journal of Dermatology 101, 143S�7S Laboratory Animals (2005) 39 Hair and swimming behaviourThe role of hair in swimming of laboratory mice: implications for behavioural studies in animals with abnormal hair A V Kalueff1 and P Tuohimaa2 1 Department of Anatomy, Medical School; 2 Department

Medullary trichomalacia is the name proposed for a hair shaft abnormality that was recognized in 6 German shepherd dogs. Affected dogs had multifocal areas of broken hairs, especially on the dorsolateral trunk. Microscopic examination of hair shafts revealed focal areas of loss of architecture, swelling, and ...

Trichopoliodystrophy (also known as Menkes' kinky or steely hair disease), a recessive sex-linked syndrome, is characterized by severely retarded mental and physical development, convulsions, a particular phenotype and abnormalities of the hair, bones and arteries. Very low levels of copper and ceruloplasmin in the ...

... a brief outline for the development and implementation of ... data exceptions with the abnormalities will be ... the attributes of the abnormality and search ...

Members of the microRNA (miRNA) 183 family (miR-183, miR-96, and miR-182) are expressed abundantly in specific sensory cell types in the eye, nose, and inner ear. In the inner ear, expression is robust in the mechanosensory hair cells and weak in the associated statoacoustic ganglion (SAG) neurons; both cell types can share a common lineage during ...

Members of the microRNA (miRNA) 183 family (miR-183, miR-96 and miR-182) are expressed abundantly in specific sensory cell types in the eye, nose and inner ear. In the inner ear, expression is robust in the mechanosensory hair cells and weak in the associated statoacoustic ganglion (SAG) neurons; both cell types can share a common lineage during ...

Belgian Waterslager (BW) canaries have an inherited hearing loss due to missing and abnormal hair cells, but it is unclear whether the loss is congenital or developmental. We used auditory brainstem responses and scanning electron microscopy to describe the development of auditory sensitivity and hair cell ...

In embryonic Eda mutant ("Tabby") mice, the development of one of the two major types of hair, "primary" hair fails, but other "secondary" hairs develop in normal numbers, though shorter and slightly aberrant. In Tabby mice, Shh is undetectable in skin early on, but is activated during ...

The desmosomes form the basis of intercellular support structure within the epidermis. However, various junctions, including gap junctions, adherens junctions, and tight junctions play an important part in the intercellular bridges that are vital for cell�cell interactions and structural stability. Numerous mutations can affect the genetic structure that make up these junctions and in turn cause ...

Sensory hair bundles in the inner ear are composed of stereocilia that can be interconnected by a variety of different link types, including tip links, horizontal top connectors, shaft connectors, and ankle links. The ankle link antigen is an epitope specifically associated with ankle links and the calycal processes of photoreceptors in chicks. Mass spectrometry and ...

The homeobox gene Msx-2 is expressed specifically in sites of skin appendage formation. To explore its part in skin morphogenesis, we produced transgenic mice expressing Msx-2 under the control of the cytomegalovirus promoter. The skin of these transgenic mice was flaky, exhibiting desquamation and shorter hairs. Histologic analysis showed thickened epidermis with ...

Evidence is presented to support the hypothesis that the cochleae of young animals are more susceptible to auditory trauma than the cochleae of the adult. A sensitive period of heightened susceptibility to acoustic trauma from noise exposure has been demonstrated in three mammalian species. The cochlear pathology associated with this trauma is severe damage to the outer hair ...

Infection of alfalfa with Rhizobium meliloti exo mutants deficient in exopolysaccharide results in abnormal root nodules that are devoid of bacteria and fail to fix nitrogen. Here we report further characterization of these abnormal nodules. Tightly curled root hairs or shepherd's crooks were found after inoculation with Rm ...

Rapid alkalinization factor (RALF) is a 49-amino-acid peptide that rapidly alkalinizes cultivated tobacco cell cultures. In the native tobacco Nicotiana attenuata, NaRALF occurs as a single-copy gene and is highly expressed in roots and petioles. Silencing the NaRALF transcript by transforming N. attenuata with an inverted-repeat construct generated plants (irRALF) with normal wild-type (WT) ...

in stamen hairs, pollen abortion, microspore death, disturbed spindle function, and total chromosome abnormalities. In the Neurospora crassa, ...

The hair follicle has a unique dynamic property to cyclically regenerate throughout life. Despite significant progress in hair structure and hair shape determination using animal models, the mechanisms controlling the architecture and the shape of the human hair remain largely unexplored. In this study, comparison ...

Usher syndrome is the leading cause of combined deaf-blindness, but the molecular mechanisms underlying the auditory and visual impairment are poorly understood. Usher I is characterized by profound congenital hearing loss, vestibular dysfunction and progressive retinitis pigmentosa beginning in early adolescence. Using the c.216G>A cryptic splice site mutation in exon 3 of the USH1C gene found ...

Idiopathic hypoparathyroidism is a rare disorder produced by parathyroid hormone deficiency of unknown cause. It is often associated with other endocrine abnormalities. Patients with idiopathic hypoparathyroidism frequently develop ectodermal disease, including dry, rough skin: coarse, brittle hair; and lusterless, distally split ...

Pinna abnormalities and low-set ears refer to abnormalities in the shape or position of the outer ear (pinna ... critical organs are developing (such as the kidneys). Abnormalities in the shape or position of the pinna ...

The sparse fur with abnormal skin and hair (Spf-ash) mouse is a model for the human X-linked hereditary disorder, ornithine transcarbamylase (OTC) deficiency. In Spf-ash mice, both OTC mRNA and enzyme activity are 5% of control values resulting in hyperammonemia, pronounced orotic aciduria and an abnormal phenotype characterized by ...

The hair follicle is one of the skin appendages that develops through reciprocal epithelial-mesenchymal interactions. Although a large number of studies have been made on the mechanisms of hair follicle development, the whole molecular mechanism that governs hair follicle ...

... departments and agencies for Research Development Test and ... Title : WATER DISTRIBUTION ABNORMALITIES IN HYPOTHYROID DOGS DUE ...

... the military departments and agencies for Research Development Test and ... Title : Vascular Abnormalities Associated with Thermal and Electrical ...

... the military departments and agencies for Research Development Test and ... STUDIES ON THE NATURE OF THE ABNORMALITIES IN SOLUTE ...

... 0703 TITLE: Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development ...

... 0702 TITLE: Redox abnormalities as a vulnerability phenotype for Autism and related alternations in CNS development ...

... and analysis capabilities across the military departments and agencies for Research Development Test and ... Title : Platelet Abnormalities in Malaria. ...

... military departments and agencies for Research Development Test and ... Title : Molecular Mechanisms of Glial Abnormalities in Neurofibromatosis. ...

... capabilities across the military departments and agencies for Research Development Test and ... Title : Detection of Abnormalities in MANETs. ...

... military departments and agencies for Research Development Test and ... Title : DETECTING BURNING ABNORMALITIES IN A SOLID PROPELLANT ...

... military departments and agencies for Research Development Test and ... Title : DETECTING BURNING ABNORMALITIES IN A SOLID PROPELLANT ...

... the military departments and agencies for Research Development Test and ... Title : CHROMOSOME ABNORMALITIES IN LIVER AND MARROW OF ...

Two different, hitherto unknown, diseases occurred in two specimens of Sagitta crassa which were individually isolated and maintained in the laboratory. One specimen survived for 24 days, producing a total of 343 eggs and suddenly died without showing any prior symptoms, and upon death had a grotesque appearance. The other had ciliary sense organs the hairs of which became ...

We investigated the relationship between serum concentrations of prolactin (PRL) and dehydroepiandrosterone (DHEA) during initiation and development of summer and winter hair growth (anagen) cycles in mink. In the spring, haloperidol (HAL) increased PRL concentrations and induced summer anagen earlier than controls, whereas melatonin (MEL) inhibited PRL ...

Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6�years, the other was transplanted because of severe heart failure at the age of 10�years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in ...

We introduce cyclophosphamide-induced alopecia (CYP-IA) in C57BL-6 mice as a clinically relevant model for studying the biology of chemotherapy-induced alopecia and for developing anti-alopecia drugs. One injection of CYP to mice with all back skin follicles in anagen VI induces severe alopecia that strikingly reproduces the follicle response, recovery, and histopathology seen ...

An association between autism and early life exposure to mercury is a hotly debated issue. In this study, 91 autistic Polish children, male and female, 3-4 and 7-9 years old, were compared to 75 age- and sex-matched healthy children with respect to: demographic, perinatal, clinical and developmental measures, parental age, birth order, morphometric measures, vaccination history, and ...