Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Margarita Indelman, +11

Nature Genetics

Tumor BiologySomatic VariantMedicinePathologyO-linked Glycosylation +5

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz, +8

The American Journal of Human Genetics

Developmental AnomalyClinical DisordersLoss-of-function MutationMendelian DisorderGenetic Disorder +7

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren, +12

The American Journal of Human Genetics

Snare Protein InvolvedNeuromuscular JunctionCerebral DysgenesisDevelopmental BiologyScleroderma +10

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto, +10

The American Journal of Human Genetics

Autosomal Recessive IchthyosisMedicineGeneticsPathogenesisNatural Sciences +3

Detection of a chromosomal region with two quantitative trait loci, affecting cold tolerance and fish size, in an F2 tilapia hybrid

Avner Cnaani, Eric M. Hallerman, Micha Ron, +5

Aquaculture

BiologyGenetic DiversityQuantitative GeneticsQuantitative Trait LociCytogenetics +10

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

Jennie Lugassy, Peter Itin, Akemi Ishida‐Yamamoto, +10

The American Journal of Human Genetics

Allelic Ectodermal DysplasiasGenetic DisorderNaegeli-franceschetti-jadassohn SyndromePathologyDermatology +4

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz, Raoul Heller, Assimina Galli‐Τsinopoulou, +7

Human Genetics

Tumoral PathologyFamilial Tumoral CalcinosisPathologyCancer GeneticsMedicine +4

A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Orit Topaz, Margarita Indelman, Ilana Chefetz, +8

The American Journal of Human Genetics

Deleterious MutationSomatic VariantGenetic DisorderMedicineGenetics +8

Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris

Ofer Sarig, Sivan Bercovici, Lilach Zoller, +22

Journal of Investigative Dermatology

BiologyGenetic DiversityAllelic VariantPhylogeneticsBiochemical Taxonomy +13

Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein

Ilana Chefetz, Danny Ben Amitai, Sarah Browning, +10

Journal of Investigative Dermatology

Tumor BiologyMedicineGeneticsDeleterious MutationsPathology +5