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Ectodermal Dysplasia
Ectodermal Dysplasia (ED) refers to a group of genetic disorders characterized by the abnormal development or function of two or more structures that originate from the ectoderm, the outer layer of an embryo. These structures include hair, teeth, nails, and sweat glands, all of which may develop abnormally in people with ED. There are over 200 different syndromes classified under ED, each with a range of symptoms and genetic causes. The most common type is Hypohidrotic Ectodermal Dysplasia (HED), which affects approximately 1 in every 5,000 to 10,000 live births. HED primarily affects males because it is typically inherited through the X chromosome. The genetic cause of ED lies in mutations, or changes, in certain genes that play an essential role in forming ectodermal structures. These genes are part of signalling pathways—most notably, the EDA/NF-kappaB pathway—which guide the development of hair, skin, nails, teeth, and glands during embryonic growth. Genes such as ''EDA'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Dental Abnormalities In A 5-year-old Girl From North Sweden Family Who Suffered From Various Symptoms Of Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (HED)
Dental may refer to: * Dental consonant, in phonetics * Dental Records, an independent UK record label * Dentistry, oral medicine * Teeth See also * * Dental care (other) * Dentist (other) * Tooth (other) {{Disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Dermatopathia Pigmentosa Reticularis
Dermatopathia pigmentosa reticularis (DPR) is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. DPR is a non life-threatening disease that largely affects the skin, hair, and nails. It has also been identified as a keratin disorder. Historically, as of 1992, only 10 cases had been described in world literature; however, due to recent advances in genetic analysis, five additional families studied in 2006 have been added to the short list of confirmed cases. Signs and symptoms Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints. It is also characterized by a widespread, early-onset reticulate hyperpigmentation. Those affected may also have adermatoglyphia, abnormal epithelial differentiation, palmoplantar hyperkeratosis of the palms and s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Cory DeVante Williams
Cory DeVante Williams (born November 9, 1992), known online as CoryxKenshin, is an American YouTuber, writer and actor. Williams joined YouTube on April 26, 2009. Known for his comedic playthroughs of horror games, Williams was ranked the fourth top creator in the United States in 2021. Internet career Williams began uploading videos to YouTube in 2009. Although he originally created comedy sketches, Williams began to play popular horror games such as ''Five Nights at Freddy's'' (2014) and ''Bloodborne (''2015) instead, along with creating the "Spooky Scary Sunday" horror short film reaction series. He also played video games of other genres and triple-A games such as ''Elden Ring'' (2022). His video of the rhythm game ''Friday Night Funkin''' (2020) became the fifth most-viewed video in the United States in 2021.See: * * '' IGN Africa'' described the video as "part music video, part playthrough" and praised Williams' use of comedy in the video. Besides his let's plays, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Shahzad Ismaily
Shahzad Ismaily (born 20 June 1972 in Pennsylvania) is an American multi-instrumentalist, known mainly as a bass guitar player, and record producer. He is a member of Marc Ribot's trio Ceramic Dog since its formation in 2006. He also plays with Secret Chiefs 3 and Cosa Brava. He is of Pakistani origin. In 2009, he composed music for the documentary film '' William Kunstler: Disturbing the Universe''. In 2012, he played banjo and electric guitar while appearing in Ragnar Kjartansson's installation film '' The Visitors.'' He was invited to join the otherwise all Icelandic cast by then-partner Gyða Valtýsdóttir. In 2019, he released the album ''Dreams of Sleep and Wakes of Sound'' in collaboration with Laraaji and Merz. He is featured in the 2021 Bob Dylan concert film '' Shadow Kingdom: The Early Songs of Bob Dylan''. His 2023 album '' Love in Exile'', made in collaboration with Arooj Aftab and Vijay Iyer, was nominated for the Grammy Award for Best Alternative Jazz Al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
YouTube
YouTube is an American social media and online video sharing platform owned by Google. YouTube was founded on February 14, 2005, by Steve Chen, Chad Hurley, and Jawed Karim who were three former employees of PayPal. Headquartered in San Bruno, California, it is the second-most-visited website in the world, after Google Search. In January 2024, YouTube had more than 2.7billion monthly active users, who collectively watched more than one billion hours of videos every day. , videos were being uploaded to the platform at a rate of more than 500 hours of content per minute, and , there were approximately 14.8billion videos in total. On November 13, 2006, YouTube was purchased by Google for $1.65 billion (equivalent to $ billion in ). Google expanded YouTube's business model of generating revenue from advertisements alone, to offering paid content such as movies and exclusive content produced by and for YouTube. It also offers YouTube Premium, a paid subs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. These disorders result in the development of structures including the skin where people sweat less.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Presentation Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat ( hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. The hair is often light-coloured, brittle, and slow-growing. This condition is also characterized by absent teeth ( hypodontia) or teeth that are malformed. Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide. Genetics Mutations in the '' EDA'', '' EDAR'', an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Michael Berryman
Michael John Berryman (born September 4, 1948) is an American character actor. Berryman was born with hypohidrotic ectodermal dysplasia, a rare condition characterized by the absence of sweat glands, hair, and fingernails; his unusual physical appearance has allowed Berryman to make a career out of portraying characters in a number of cult films, horror films and B movies. He first came to prominence for his roles in Miloš Forman's ''One Flew Over the Cuckoo's Nest'' (1975) and Wes Craven's '' The Hills Have Eyes'' (1977). He has appeared in a wide range of feature films and television series, including ''Star Trek'', ''The X-Files'', and ''Highway to Heaven'', in which he portrayed Satan. Early life Michael John Berryman was born September 4, 1948, in Los Angeles, California, the second of two children of Sloan and Barbara Berryman. He has one elder sister, Virginia. Berryman is of partial German descent; his German great-grandfather was a doctor who worked in Vienna. Berryman' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
EVC (gene)
EVC is a gene associated with Ellis–Van Creveld syndrome. It overlaps with the CRMP1 gene. EVC is one of two genes (the other being EVC2) that upon mutation give rise to EvC (Ellis-van Creveld) syndrome in humans and is found to act as a positive mediator for three hedgehog (Hh) signaling molecules. Mice with an inactivation of the EVC gene (EVC −/−) were found to exhibit similar physical characteristics as humans, such as shortened limbs and dental impairments. In a study of 65 individuals affected with EvC, mutations in the EVC gene were found in 20 of them, and primarily attributed to a frameshift resulting in a nonsense codon. More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC gene mutations. See also * Leucine zipper A leucine zipper (or leucine scissors) is a common three-dimensional structural motif in proteins. They were first described by Landschulz and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Ellis–van Creveld Syndrome
Ellis–Van Creveld syndrome (also called ''mesoectodermal dysplasia'' but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type. Signs and symptoms It involves numerous anomalies including: * Post-axial polydactyly * Congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals) * Teeth present at birth ( natal teeth) * Fingernail dysplasia * Short-limbed dwarfism, mesomelic pattern * Short ribs * Cleft palate * Malformation of the wrist bones (fusion of the hamate and capitate bones). Genetics Ellis–Van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is au ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
PORCN
PORCN (porcupine homolog – Drosophila) is a human gene. The protein is homologous to other membrane-bound O-acyltransferases. Function The protein encoded by this gene is an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A. It performs O- Palmitoleoylation of these proteins. Clinical significance Mutations in this gene are associated with focal dermal hypoplasia Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink .... Mutations in PORCN are associated to Goltz-Gorlin syndrome. Ligands Inhibitors * WNT974 (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours. Also investigated for influencing cardiac tissue remodelling following infarction. IWP (1-4) RXC004 References {{gene-X-s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
