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Academic Journal

This Month in The Journal.

Authors : Ratzel, Sarah¹; Cullinan, Sara B.²

Subjects: *ATHEROSCLEROSIS risk factors; *POINT mutation (Biology); *CRISPRS

Source: American Journal of Human Genetics. Feb2017, Vol. 100 Issue 2, p181-182. 2p.

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A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

Authors : Johnston, Jennifer J.¹; Sanchez-Contreras, Monica Y.²; Keppler-Noreuil, Kim M.¹

Subjects: *GENETIC disorders; *POINT mutation (Biology); *PLATELET-derived growth factor receptors

Source: American Journal of Human Genetics. Sep2015, Vol. 97 Issue 3, p465-474. 10p.

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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Authors : Li, Jun¹; Woods, Susan L.²; Healey, Sue¹

Subjects: *POINT mutation (Biology); *STOMACH cancer; *ADENOCARCINOMA

Source: American Journal of Human Genetics. May2016, Vol. 98 Issue 5, p830-842. 13p.

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Authors : Küry, Sébastien; Besnard, Thomas; Ebstein, Frédéric

Subjects: PROTEASOMES; NEURODEGENERATION; POINT mutation (Biology)

Source: American Journal of Human Genetics. Feb2017, Vol. 100 Issue 2, p352-363. 12p.

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Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia.

Authors : Bhatia, Shipra; Bengani, Hemant; Fish, Margaret

Subjects: GENETIC mutation; ANIRIDIA; GENETIC regulation

Source: American Journal of Human Genetics. Dec2013, Vol. 93 Issue 6, p1126-1134. 9p.

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Academic Journal

Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle.

Authors : Guo, Yu; Wei, Xiaomu; Das, Jishnu

Subjects: HEREDITY; THREE-dimensional imaging; PHYSIOLOGICAL effects of proteins

Source: American Journal of Human Genetics. Jul2013, Vol. 93 Issue 1, p78-89. 12p.

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Academic Journal

SHANK1 Deletions in Males with Autism Spectrum Disorder

Authors : Sato, Daisuke; Lionel, Anath C.; Leblond, Claire S.

Subjects: AUTISM spectrum disorders; DELETION mutation; CHROMOSOMES

Source: American Journal of Human Genetics. May2012, Vol. 90 Issue 5, p879-887. 9p.

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Academic Journal

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Authors : Klopocki, Eva; Hennig, Bianca P.; Dathe, Katarina

Subjects: HUMAN abnormality genetics; DELETION mutation; POINT mutation (Biology)

Source: American Journal of Human Genetics. Mar2010, Vol. 86 Issue 3, p434-439. 6p.

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