Zobrazeno 1 - 10
of 1 202
pro vyhledávání: '"Autosomal recessive trait"'
Publikováno v:
International Journal of Oral Health Dentistry. 7:210-215
Papillon-Lefevere syndrome is a very rare autosomal recessive trait characterized by palmoplantar hyperkeratosis and severe generalized early-onset periodontitis leading to premature loss of primary and permanent dentitions. Various etiopathogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1156fd91fb3eb800015cf0a04e3b8ac
https://doi.org/10.18231/j.ijohd.2021.042
https://doi.org/10.18231/j.ijohd.2021.042
Autor:
Keiji Honda, Andrew J. Griffith
Publikováno v:
Human Genetics. 141:455-464
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. The mutant SLC26A4 phenotype is characterized by inn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52bd58d7c36f1a5227a042a0b59c160d
https://doi.org/10.1007/s00439-021-02311-1
https://doi.org/10.1007/s00439-021-02311-1
Autor:
Kiwoong Ko, Jong-Won Kim
Publikováno v:
Case Reports in Nephrology and Dialysis. 11:210-213
Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7950aad0459bc141274c570ed7a3f8eb
https://doi.org/10.1159/000517139
https://doi.org/10.1159/000517139
Publikováno v:
Mammalian Biology. 101:439-449
The golden wildebeest, a colour variant of the blue wildebeest (Connochaetes taurinus taurinus), is one of the most common colour variant animals that South African game ranchers breed for. Based on pedigree records, the prevailing hypothesis is that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffdd32597c677ee07eb98fb062826cd3
https://doi.org/10.1007/s42991-021-00126-1
https://doi.org/10.1007/s42991-021-00126-1
Autor:
Kota Matsuki, Shun Ishibashi, Mika Hori, Masatsune Ogura, Toshio Hayashi, Shinji Yokoyama, Hiroaki Okazaki, Kyoko Inagaki, Takanari Gotoda, Mariko Harada-Shiba, Hiroyuki Daida, Daisaku Masuda
Publikováno v:
Journal of Atherosclerosis and Thrombosis
Primary chylomicronemia (PCM) is a rare and intractable disease characterized by marked accumulation of chylomicrons in plasma. The levels of plasma triglycerides (TGs) typically range from 1,000 - 15,000 mg/dL or higher. PCM is caused by defects in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c93c6a56bf6f4d1056026150170789a9
http://europepmc.org/articles/PMC8532063
http://europepmc.org/articles/PMC8532063
Publikováno v:
J Vet Diagn Invest
Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ace34d035e1a9ca5c05a78aee8eda8
https://doi.org/10.1177/10406387211007526
https://doi.org/10.1177/10406387211007526
Autor:
Liora Sagi, Deeksha Bali, Itay Tokatly Latzer, Aviva Fattal-Valevski, Catherine Rehder, Rotem Orbach
Publikováno v:
Neuropediatrics. 52:475-479
Pompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the GAA gene. It manifests as a broad spectrum of clinical phenotypes with progressive weakness that impairs motor and respiratory functions b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e533dbf1fb85a076371dbe10ff836b6
https://doi.org/10.1055/s-0040-1722680
https://doi.org/10.1055/s-0040-1722680
Publikováno v:
Nigerian Journal of Paediatrics. 48:50-53
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta-galactosidase (GLB11) resultin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93e65217ca45914d7864b17e75e52aaf
https://doi.org/10.4314/njp.v48i1.10
https://doi.org/10.4314/njp.v48i1.10
Publikováno v:
Pediatric Dermatology. 38:436-441
Background Epidermolysis bullosa simplex (EBS) is a heterogeneous group of inherited disorders characterized by skin fragility due to intraepidermal separation. Most cases result from heterozygous mutations in KRT5 or KRT14; however, a minority of af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b279ea89b73d5f1a75d7e783d21843
https://doi.org/10.1111/pde.14477
https://doi.org/10.1111/pde.14477
Publikováno v:
AIMS Molecular Science. 8:60-75
Alkaptonuria (AKU) is a rare metabolic disease which is inherited as an autosomal recessive trait. It is characterized by the accumulation of homogentisic acid over time in various tissues of the body particularly connective tissues. This genetic dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::417e813b400d5dbef0cf55bb4fcc35e6
https://doi.org/10.3934/molsci.2021005
https://doi.org/10.3934/molsci.2021005