Results 21 to 30 of about 979 (113)

Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. [PDF]

Indian J Med Res, 2016
Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis).
Izadi F, Mahjoubi F, Farhadi M, Kalayinia S, Bidmeshkipour A, Tavakoli MM, Samanian S.   +6 more
europepmc   +2 more sources

Lipoid proteinosis: A series of three cases

Indian Journal of Paediatric Dermatology, 2018
Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring,
Astha Sharma, Lalit Kumar Gupta, Manisha Balai, Ashok Kumar Khare   +3 more
doaj   +1 more source

Relationship Between Syrinx Resolution and Cervical Sagittal Realignment Following Decompression Surgery for Chiari I Malformation Related Syringomyelia Based on Configuration Phenotypes [PDF]

, 2022
Objective Combined with different configuration types of syringomyelia, to analyze the correlation between syrinx resolution and changes in cervical sagittal alignment following Foramen magnum and Magendie dredging (FMMD) for syringomyelia associated ...
Jian, Fengzeng, Wanru Duan, Liu, Zhenlei, Guan, Jian, Wu, Hao, Lu, Chunli, Chen, Zan, Hao Wu, Duan, Wanru, Longbing Ma, Fengzeng Jian, Jian Guan, Zan Chen, Ma, Longbing, Wang, Kai, Chunli Lu, Kai Wang, Zhenlei Liu   +17 more
core   +2 more sources

Moniliform deformation of retinal ganglion cells by formaldehyde‐based fixatives [PDF]

, 2015
Protocols for characterizing cellular phenotypes commonly use chemical fixatives to preserve anatomical features, mechanically stabilize tissue, and stop physiological responses.
Kenneth P. Greenberg, Andrew T. Ishida, Gloria J. Partida, Aaron Pham, Tyler W. Stradleigh   +4 more
core   +2 more sources

A rare case report of lipoid proteinosis with distichiasis and trichomegaly: An interesting entity

Clinical Dermatology Review
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by infiltration of periodic acid schiff (PAS)-positive diastase-resistant hyaline material in the skin, oral cavity, and larynx caused by a mutation in the extracellular matrix ...
H Bangaru, Sathish Shankar, Nanjundaswamy Bisalavadi Lingaiah, S R Shivani, B Y Praveen, Tejaswini Acharya   +5 more
doaj   +1 more source

Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings

Clinical Medicine Insights: Case Reports
Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and ...
Muhammad Murtaza MBBS, Insharah Zafar MBBS, Bareea Mubashar MBBS, Abedin Samadi MBBS, Ahmed Asad Raza MBBS   +4 more
doaj   +1 more source

Blepharosis sirotka Gyulai & Saldaitis & Truuverk & Vaitonis 2019, sp. n.

, 2019
Blepharosis sirotka Gyulai & Saldaitis sp. n. (Figs 1–4, 7, 8) Type material. Holotype (Fig.1): male, China, W Sichuan, road Batang / Litang, 30 km W from Litang, 4200m, 21.IX.2017, leg. A. Saldaitis; slide no. PGY 4893m, coll.
Saldaitis, Aidas, Gyulai, Peter, Vaitonis, Gintas, Truuverk, Andro   +3 more
core   +1 more source

Figure 1 from: Chen G, Xiao L, Liang J, Shih C, Ren D (2021) A new cockroach (Blattodea, Corydiidae) with pectinate antennae from mid-Cretaceous Burmese amber. ZooKeys 1060: 155-169. https://doi.org/10.3897/zookeys.1060.67216

, 2021
Figure 1 Holotype of Fragosublatta pectinata gen. et sp. nov. CNU-BLA-MA2015001 A photograph of habitus in dorsal view B photograph of habitus in ventral view C photograph of the pronotum, with arrowhead indicating the tubercles D photograph of the ...
Chen, Guanyu, Shih, Chungkun, Xiao, Lifang, Ren, Dong, Liang, Junhui   +4 more
core   +1 more source

Rhizopus stolonifer exhibits dimorphism [PDF]

, 2013
This study showed that multiple morphologies could be induced from sporangiospores of Rhizopus stolonifer in minimal medium. These included moniliform hyphae, septate hyphae and terminal budding yeast cells.
Omoifo, CO
core   +1 more source

Oxazinethione derivatives as a precursor to pyrazolone and pyrimidine derivatives: Synthesis, biological activities, molecular modeling, adme, and molecular dynamics studies

, 2021
The authors thank Taif University Researchers, supporting project number TURSP-2020/91, Taif University, Taif, Saudi Arabia.In this study, we used oxazinethione as a perfect precursor to synthesize new pyrimidine and pyrazole derivatives with potent ...
Hussien, M.A., Arief, M.M.H., Abdellattif, Magda H, Shahbaaz, Mohd   +3 more
core   +2 more sources