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MAMLD1 is known to be a causative gene for hypospadias.
4 It was subsequently found to be a causative gene in familial Parkinson's disease and was named PARK7 in 2003.
More recently, TLS attracts attention because it was found to be a causative gene for the familial ALS [ 2, 3].
Indeed, in response to interploidy hybridizations many imprinted genes are deregulated (Jullien and Berger, 2010; Tiwari et al., 2010; Wolff et al., 2011) and the paternally expressed imprinted gene ADMETOS (ADM) has been identified to be a causative gene responsible for abortion of triploid seeds upon paternal excess hybridizations in Arabidopsis (Kradolfer et al., 2013).
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PQBP1 is a causative gene for X-linked mental retardation (MR) whose patients frequently show lean body.
MAMLD1 (mastermind-like domain containing 1, alias CXorf6) on human chromosome Xq28 is a causative gene for hypospadias, a mild form of 46,XY disorders of sex development (DSD) [1].
ALS2 is a causative gene for a juvenile autosomal recessive form of motor neuron diseases (MNDs) [4], [5], [6], including amyotrophic lateral sclerosis 2 (ALS2) [7] (OMIM 205100), juvenile primary lateral sclerosis (PLSJ) [8] (OMIM 606353), and infantile-onset ascending hereditary spastic paralysis (IAHSP) [9] (OMIM 607225).
These results suggest LPP is a causative gene in the pathogenesis of CeD.
AR is a causative gene for androgen insensitivity syndrome, an X-linked recessive disorder in which affected males have female external genitalia and breast development (Morris, 1953).
Human MCPH1 (hMCPH1) is a causative gene of autosomal recessive primary microcephaly (MCPH), a neurodevelopment disorder characterized by reduced brain size (Jackson et al., 2002; Woods et al., 2005).
The gene encoding Alsin, ALS2, is a causative gene of several motoneuron degenerative diseases, including juvenile amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-onset ascending hereditary spastic paralysis [ 118].
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