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Refinado por: Base de dados/Biblioteca: EBSCOhost Academic Search Premier remover assunto: Science & Technology remover Proteins remover
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1
Reduced ELANE and SLPI expression compromises dental pulp cell activity
Reduced ELANE and SLPI expression compromises dental pulp cell activity
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Reduced ELANE and SLPI expression compromises dental pulp cell activity

Sriwattanapong, Kanokwan ; Sa‐Ard‐Iam, Noppadol ; Boonprakong, Lawan ; Subbalekha, Keskanya ; Trachoo, Vorapat ; Suratannon, Narissara ; Porntaveetus, Thantrira ; Shotelersuk, Vorasuk

Cell proliferation, 2021-11, Vol.54 (11), p.e13132-n/a [Periódico revisado por pares]

Chichester: John Wiley & Sons, Inc

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2
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
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Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

Sangsin, Apiruk ; Kuptanon, Chulaluck ; Srichomthong, Chalurmpon ; Pongpanich, Monnat ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk

BMC medical genetics, 2017-03, Vol.18 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Hermansky-Pudlak syndrome is caused by mutations in HPS4 , the human homolog of the mouse light-ear gene
Hermansky-Pudlak syndrome is caused by mutations in HPS4 , the human homolog of the mouse light-ear gene
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Hermansky-Pudlak syndrome is caused by mutations in HPS4 , the human homolog of the mouse light-ear gene

Spritz, Richard A ; Suzuki, Tamio ; Li, Wei ; Zhang, Qing ; Karim, Amna ; Novak, Edward K ; Sviderskaya, Elena V ; Hill, Simon P ; Bennett, Dorothy C ; Levin, Alex V ; Nieuwenhuis, H. Karel ; Fong, Chin-To ; Castellan, Claudio ; Miterski, Bianca ; Swank, Richard T

Nature genetics, 2002-03, Vol.30 (3), p.321-324 [Periódico revisado por pares]

London: Nature Publishing Group

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4
New aspects of the pathogenesis of cystinosis
New aspects of the pathogenesis of cystinosis
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New aspects of the pathogenesis of cystinosis

KALATZIS, Vasiliki ; ANTIGNAC, Corinne

Pediatric nephrology (Berlin, West), 2003-03, Vol.18 (3), p.207-215 [Periódico revisado por pares]

Heidelberg: Springer

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5
The melanosome: membrane dynamics in black and white
The melanosome: membrane dynamics in black and white
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The melanosome: membrane dynamics in black and white

Marks, Michael S ; Seabra, Miguel C

Nature reviews. Molecular cell biology, 2001-10, Vol.2 (10), p.738-748 [Periódico revisado por pares]

England: Nature Publishing Group

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6
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis
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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

Brasell, Emma J ; Chu, Lee Lee ; Akpa, Murielle M ; Eshkar-Oren, Idit ; Alroy, Iris ; Corsini, Rachel ; Gilfix, Brian M ; Yamanaka, Yojiro ; Huertas, Pedro ; Goodyer, Paul Joles, Jaap A.

PloS one, 2019-12, Vol.14 (12), p.e0223954-e0223954 [Periódico revisado por pares]

United States: Public Library of Science

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7
Common mutation causes cystinosis in the majority of black South African patients
Common mutation causes cystinosis in the majority of black South African patients
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Common mutation causes cystinosis in the majority of black South African patients

Owen, E. Patricia ; Nandhlal, Jenisha ; Leisegang, Felicity ; Van der Watt, George ; Nourse, Peter ; Gajjar, Priya

Pediatric nephrology (Berlin, West), 2015-04, Vol.30 (4), p.595-601 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
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Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Khalesi, Raziyeh ; Razmara, Ehsan ; Asgaritarghi, Golareh ; Tavasoli, Ali Reza ; Riazalhosseini, Yasser ; Auld, Daniel ; Garshasbi, Masoud

BMC neurology, 2021-04, Vol.21 (1), p.180-180, Article 180 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects
Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects
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Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects

Lorenzi, Luisa ; Tabellini, Giovanna ; Vermi, William ; Moratto, Daniele ; Porta, Fulvio ; Notarangelo, Lucia D ; Patrizi, Ornella ; Sozzani, Silvano ; de Saint Basile, Genevieve ; Latour, Sylvain ; Pace, David ; Lonardi, Silvia ; Facchetti, Fabio ; Badolato, Raffaele ; Parolini, Silvia Alici, Evren

PloS one, 2013-11, Vol.8 (11), p.e80131-e80131 [Periódico revisado por pares]

United States: Public Library of Science

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10
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

Gahl, William A ; Anikster, Yair ; Huizing, Marjan ; White, James ; Shevchenko, Yuriy O ; Fitzpatrick, Diana L ; Touchman, Jeffrey W ; Compton, John G ; Bale, Sherri J ; Swank, Richard T ; Toro, Jorge R

Nature genetics, 2001-08, Vol.28 (4), p.376-380 [Periódico revisado por pares]

London: Nature Publishing Group

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