<i>SEMA3A</i> mutations identified in Kallmann syndrome patients.

NIAID Data Ecosystem2026-03-07 收录

Kallmann综合征

SEMA3A基因突变

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https://figshare.com/articles/dataset/_SEMA3A_mutations_identified_in_Kallmann_syndrome_patients_/258718 数据链接链接失效反馈

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SEMA3A mutations identified in Kallmann syndrome patients.

创建时间：

2012-08-23

Supplementary Material for: Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation

遗传学

Kallmann综合征

Background: Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of hypogonadotropic hypogonadism and anosmia. KS is occasionally associated with deaf

DataCite Commons2020-09-02 更新100

G93A-hSOD1 ALS mice were bred with the K108N-SEMA3A line to create ALS mice homozygote or heterozygote for the mutant SEMA3A gene.

ALS疾病模型

SEMA3A基因突变

G93A-hSOD1 ALS mice were bred with the K108N-SEMA3A line to create ALS mice homozygote or heterozygote for the mutant SEMA3A gene.

NIAID Data Ecosystem50

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Kallmann综合征

基因突变

Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 u

NIAID Data Ecosystem40

Table_1_Seminal Plasma Lipidomics Profiling to Identify Signatures of Kallmann Syndrome.docx

脂质组学

Kallmann综合征

BackgroundKallmann syndrome (KS) is a rare developmental disorder. Our previous metabolomics work showed substantial changes in linoleic acid and glycerophospholipid metabolism in KS. Here, we perform

NIAID Data Ecosystem50

The novel function of miR-3195 in targeting mutant PROK2 to prevent Kallmann syndrome

Kallmann综合征

miRNA研究

Kallmann syndrome (KS) is a rare human genetic disorder characterized by hypogonadotropic hypogonadism with the reduction or absence of olfactory sense. Mutations in multiple genes, including chemokin

DataONE2020-04-09 更新50

<i>SEMA3A</i> mutations identified in Kallmann syndrome patients.

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