Results 21 to 30 of about 363,235 (161)

A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. [PDF]

Biomed Res Int, 2014
Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis.
Vaigundan D, Kalmankar NV, Krishnappa J, Gowda NY, Kutty AV, Krishnaswamy PR.   +5 more
europepmc   +2 more sources

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Dermatologica Sinica, 2018
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy   +4 more
doaj   +1 more source

Autosomal Recessive Congenital Ichthyosis [PDF]

, 2009
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin ...
Fischer, Judith
core   +1 more source

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between.
Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal   +4 more
doaj   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +1 more source

Lamellar Icthyosis – A case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V, Thimma Reddy B.V, Daneswari V, Sudhanwa N Deshmukh   +3 more
doaj   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source

Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed [PDF]

, 2012
The domestic dog (Canis familiaris) segregates more naturally-occurring diseases and phenotypic variation than any other species and has become established as an unparalled model with which to study the genetics of inherited traits. We used a genome-wide
Ricketts, SL, Penderis, J., Claudia Hartley, Louisa J. Hayward (188421), Oliver P Forman, Claudia Hartley (188416), Hartley, C, Hayward, LJ, Cathryn S Mellersh, Louisa J Hayward, Sally L. Ricketts (188424), Forman, OP, Forman, O.P., Hayward, L.J., Mellersh, CS, Cathryn S. Mellersh (113470), Sally L Ricketts, Oliver P. Forman (188411), Jacques Penderis (128969), Mellersh, C.S., Hartley, C., Jacques Penderis, Penderis, J, Ricketts, S.L.   +23 more
core   +2 more sources

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis. [PDF]

Int J Womens Dermatol
Background:. Autosomal recessive congenital ichthyosis (ARCI) is a rare genodermatosis categorized among nonsyndromic ichthyoses. While ARCI patients often manifest hair abnormalities, their impact on the quality of life remains underreported in the ...
Zaouak A, Jouini W, Abdessalem G, Abdelhak S, Hammami H, Charfeddine C, Fenniche S.   +6 more
europepmc   +2 more sources

The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]

Vestnik Dermatologii i Venerologii, 2023
Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
doaj   +1 more source