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Dysfunction of the MDM2/p53 axis is linked to premature aging

• Authors : Lessel, Davor; Wu, Danyi; Trujillo, Carlos

• Source: Journal of Clinical Investigation. October, 2017, Vol. 127 Issue 10, p3598, 11 p.

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

• Authors : Ramirez, Alfredo; Heimbach, Andre; Grundemann, Jan

• Source: Nature Genetics. October, 2006, Vol. 38 Issue 10, p1184, 8 p.

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Eine Mutation in Atp11a verursacht die autosomal dominant vererbte auditorische Neuropathie Typ 2 (AUNA2).

• Authors : Strenzke, Nicola; Chepurwar, Shashank; Wigger, Daniela

• Source: Laryngo-Rhino-Otologie; 2022 Supplement 2, Vol. 101, pS124-S125, 2p

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A mutation in Atp11a causes autosomal dominant inherited auditory neuropathy type 2 (AUNA2).

• Authors : Strenzke, Nicola; Chepurwar, Shashank; Wigger, Daniela

• Source: Laryngo-Rhino-Otologie; 2022 Supplement 2, Vol. 101, pS243-S244, 2p

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AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.

• Authors : Lang-Roth, Ruth; Fischer-Krall, Eva; Kornblum, Cornelia

Subjects: AUDITORY neuropathy; HYPERBILIRUBINEMIA; DEAFNESS

• Source: Audiology & Neurotology; Jul2017, Vol. 22 Issue 1, p30-40, 11p, 1 Diagram, 2 Charts, 3 Graphs

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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

• Authors : Sajjad, Naheed; Goebel, Ingrid; Kakar, Naseebullah

• Source: BMC Medical Genetics. November 11, 2008, Vol. 999.

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Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

• Authors : Daud, Shakeela; Kakar, Naseebullah; Goebel, Ingrid

Subjects: AMYOTROPHIC lateral sclerosis; PARAPLEGIA; ALLELES

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; Apr/May2016, Vol. 17 Issue 3/4, p260-265, 6p

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A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.

• Authors : Reiter, Rudolf; Brosch, Sibylle; Goebel, Ingrid

• Source: American Journal of Medical Genetics. Part A; Mar2015, Vol. 167A Issue 3, p670-673, 4p

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smORFer: a modular algorithm to detect small ORFs in prokaryotes.

• Authors : Bartholomäus, Alexander; Kolte, Baban; Mustafayeva, Ayten

• Source: Nucleic Acids Research; 9/7/2021, Vol. 49 Issue 15, pe89-e89, 1p

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New genetic evidence for involvement of the dopamine system in migraine with aura.

• Authors : Todt, Unda; Netzer, Christian; Toliat, Mohammad

Subjects: GENES; MOLECULAR genetics; DOPAMINE

• Source: Human Genetics; Apr2009, Vol. 125 Issue 3, p265-279, 15p, 4 Charts, 3 Graphs

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